RET

RET ret proto-oncogene

Annotation transcript: NM_020975.6

9057 unique variant annotations were identified in 3411 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
10-43572656-C-T c.-51C>T - 5-UTRSNV 1/20 - 1
10-43572670-G-C c.-37G>C - 5-UTRSNV 1/20 - 1
10-43572670-G-T c.-37G>T - 5-UTRSNV 1/20 - 1
10-43572707-A-G c.1A>G p.M1? Missense 1/20 - 1
10-43572709-G-A c.3G>A p.M1? Missense 1/20 - 3
10-43572709-G-C c.3G>C p.M1? Missense 1/20 - 1
10-43572709-G-GTA c.3_4insTA p.A2* Nonsense 1/20 - 1
10-43572709-G-T c.3G>T p.M1? Missense 1/20 - 1
10-43572710-G-A c.4G>A p.A2T Missense 1/20 - 1
10-43572711-C-G c.5C>G p.A2G Missense 1/20 - 1
10-43572712-G-A c.6G>A p.A2= Synonymous 1/20 - 4
10-43572712-G-C c.6G>C p.A2= Synonymous 1/20 - 3
10-43572712-G-T c.6G>T p.A2= Synonymous 1/20 - 3
10-43572713-A-G c.7A>G p.K3E Missense 1/20 - 1
10-43572713-A-T c.7A>T p.K3* Nonsense 1/20 - 1
10-43572715-G-A c.9G>A p.K3= Synonymous 1/20 - 1
10-43572715-G-T c.9G>T p.K3N Missense 1/20 - 1
10-43572717-C-T c.11C>T p.A4V Missense 1/20 - 1
10-43572719-A-C c.13A>C p.T5P Missense 1/20 - 1
10-43572719-A-G c.13A>G p.T5A Missense 1/20 - 1
10-43572719-GA-G c.13del p.T5Rfs*18 Frameshift 1/20 - 1
10-43572720-C-T c.14C>T p.T5M Missense 1/20 - 1
10-43572721-G-A c.15G>A p.T5= Synonymous 1/20 - 1
10-43572722-TC-CG c.16_17delinsCG p.S6R Missense 1/20 - 1
10-43572724-C-A c.18C>A p.S6= Synonymous 1/20 - 1
10-43572724-C-G c.18C>G p.S6= Synonymous 1/20 - 1
10-43572724-C-T c.18C>T p.S6= Synonymous 1/20 - 2
10-43572725-G-A c.19G>A p.G7S Missense 1/20 - 2
10-43572726-G-C c.20G>C p.G7A Missense 1/20 - 1
10-43572727-GTGCC-G c.21_24del p.A8Rfs*14 Frameshift 1/20 - 1
10-43572729-C-T c.23C>T p.A8V Missense 1/20 - 1
10-43572728-GC-G c.24del p.A9Rfs*14 Frameshift 1/20 - 1
10-43572730-C-T c.24C>T p.A8= Synonymous 1/20 - 1
10-43572731-G-A c.25G>A p.A9T Missense 1/20 - 1
10-43572731-G-GA c.25_26insA p.A9Dfs*53 Frameshift 1/20 - 1
10-43572732-C-G c.26C>G p.A9G Missense 1/20 - 1
10-43572733-G-A c.27G>A p.A9= Synonymous 1/20 - 1
10-43572733-G-C c.27G>C p.A9= Synonymous 1/20 - 2
10-43572733-G-T c.27G>T p.A9= Synonymous 1/20 - 1
10-43572734-G-A c.28G>A p.G10R Missense 1/20 - 2
10-43572734-GGG-AAC c.28_30delinsAAC p.G10N Missense 1/20 - 2
10-43572734-G-T c.28G>T p.G10W Missense 1/20 - 1
10-43572735-G-A c.29G>A p.G10E Missense 1/20 - 1
10-43572735-G-T c.29G>T p.G10V Missense 1/20 - 1
10-43572736-G-A c.30G>A p.G10= Synonymous 1/20 - 1
10-43572736-G-C c.30G>C p.G10= Synonymous 1/20 - 1
10-43572736-G-T c.30G>T p.G10= Synonymous 1/20 - 1
10-43572737-C-A c.31C>A p.L11M Missense 1/20 - 1
10-43572737-C-G c.31C>G p.L11V Missense 1/20 - 1
10-43572737-C-T c.31C>T p.L11= Synonymous 1/20 - 1
10-43572737-CT-GA c.31_32delinsGA p.L11E Missense 1/20 - 1
10-43572738-T-G c.32T>G p.L11R Missense 1/20 - 1
10-43572739-G-A c.33G>A p.L11= Synonymous 1/20 - 1
10-43572740-C-A c.34C>A p.R12S Missense 1/20 - 1
10-43572740-CG-AC c.34_35delinsAC p.R12T Missense 1/20 - 1
10-43572740-CG-GC c.34_35delinsGC p.R12A Missense 1/20 - 2
10-43572740-CGT-TGG c.34_36delinsTGG p.R12W Missense 1/20 - 1
10-43572741-G-A c.35G>A p.R12H Missense 1/20 - 3
10-43572741-G-C c.35G>C p.R12P Missense 1/20 - 1
10-43572741-G-T c.35G>T p.R12L Missense 1/20 - 3
10-43572742-T-A c.36T>A p.R12= Synonymous 1/20 - 1
10-43572742-T-C c.36T>C p.R12= Synonymous 1/20 - 1
10-43572742-T-G c.36T>G p.R12= Synonymous 1/20 - 1
10-43572743-C-A c.37C>A p.L13M Missense 1/20 - 1
10-43572743-C-T c.37C>T p.L13= Synonymous 1/20 - 3
10-43572743-CT-GC c.37_38delinsGC p.L13A Missense 1/20 - 6
10-43572745-G-GCCCCTAAT c.40_41insCCCTAATC p.L14Pfs*12 Frameshift 1/20 - 1
10-43572746-C-G c.40C>G p.L14V Missense 1/20 - 1
10-43572747-T-G c.41T>G p.L14R Missense 1/20 - 1
10-43572748-TG-T c.42del p.L15Cfs*8 Frameshift 1/20 - 1
10-43572749-T-C c.43T>C p.L15= Synonymous 1/20 - 1
10-43572749-TT-AG c.43_44delinsAG p.L15R Missense 1/20 - 1
10-43572749-TT-CC c.43_44delinsCC p.L15P Missense 1/20 - 1
10-43572749-TTG-CAT c.43_45delinsCAT p.L15H Missense 1/20 - 1
10-43572752-C-A c.46C>A p.L16M Missense 1/20 - 1
10-43572753-T-A c.47T>A p.L16Q Missense 1/20 - 1
10-43572753-T-C c.47T>C p.L16P Missense 1/20 - 1
10-43572756-T-C c.50T>C p.L17P Missense 1/20 - 4
10-43572755-C-T c.49C>T p.L17= Synonymous 1/20 - 1
10-43572757-G-A c.51G>A p.L17= Synonymous 1/20 - 3
10-43572757-G-C c.51G>C p.L17= Synonymous 1/20 - 1
10-43572757-G-T c.51G>T p.L17= Synonymous 1/20 - 1
10-43572758-CT-GC c.52_53delinsGC p.L18A Missense 1/20 - 1
10-43572749-TTGCTGC-T c.53_58del p.L18_L19del InFrameDeletion 1/20 - 1
10-43572759-T-A c.53T>A p.L18Q Missense 1/20 - 1
10-43572759-T-C c.53T>C p.L18P Missense 1/20 - 1
10-43572759-T-G c.53T>G p.L18R Missense 1/20 - 1
10-43572758-C-T c.52C>T p.L18= Synonymous 1/20 - 1
10-43572760-G-A c.54G>A p.L18= Synonymous 1/20 - 1
10-43572760-G-C c.54G>C p.L18= Synonymous 1/20 - 1
10-43572760-G-T c.54G>T p.L18= Synonymous 1/20 - 1
10-43572761-C-A c.55C>A p.L19M Missense 1/20 - 1
10-43572761-C-T c.55C>T p.L19= Synonymous 1/20 - 1
10-43572761-CT-TC c.55_56delinsTC p.L19S Missense 1/20 - 2
10-43572749-TTGC-T c.56_58del p.L19del InFrameDeletion 1/20 - 7
10-43572762-T-C c.56T>C p.L19P Missense 1/20 - 4
10-43572764-C-T c.58C>T p.P20S Missense 1/20 - 3
10-43572765-C-T c.59C>T p.P20L Missense 1/20 - 7
10-43572768-T-A c.62T>A p.L21Q Missense 1/20 - 1
10-43572770-C-G c.64C>G p.L22V Missense 1/20 - 1
10-43572772-A-G c.66A>G p.L22= Synonymous 1/20 - 1
10-43572773-G-A c.67G>A p.G23S Missense 1/20 - 1
10-43572773-GG-AC c.67_68delinsAC p.G23T Missense 1/20 - 1
10-43572774-G-A c.68G>A p.G23D Missense 1/20 - 2
10-43572774-GGC-G c.68_69del p.G23Efs*38 Frameshift 1/20 - 1
10-43572775-C-T c.69C>T p.G23= Synonymous 1/20 - 1
10-43572776-AAA-GAC c.70_72delinsGAC p.K24D Missense 1/20 - 1
10-43572778-A-G c.72A>G p.K24= Synonymous 1/20 - 1
10-43572779-G-A c.73G>A p.V25M Missense 1/20 - 5
10-43572779-G-T c.73G>T p.V25L Missense 1/20 - 1
10-43572805-C-A c.73+26C>A - IntronicSNV - 1/19 1
10-43572828-C-T c.73+49C>T - IntronicSNV - 1/19 1
10-43572832-G-A c.73+53G>A - IntronicSNV - 1/19 9
10-43572903-C-A c.73+124C>A - IntronicSNV - 1/19 1
10-43572950-A-G c.73+171A>G - IntronicSNV - 1/19 3
10-43572950-A-T c.73+171A>T - IntronicSNV - 1/19 1
10-43572951-A-C c.73+172A>C - IntronicSNV - 1/19 3
10-43573461-G-A c.73+682G>A - IntronicSNV - 1/19 1
10-43573558-C-T c.73+779C>T - IntronicSNV - 1/19 2
10-43573993-G-A c.73+1214G>A - IntronicSNV - 1/19 1
10-43574592-T-C c.73+1813T>C - IntronicSNV - 1/19 3
10-43574936-T-C c.73+2157T>C - IntronicSNV - 1/19 4
10-43575599-C-T c.73+2820C>T - IntronicSNV - 1/19 1
10-43575625-T-G c.73+2846T>G - IntronicSNV - 1/19 5
10-43575883-T-C c.73+3104T>C - IntronicSNV - 1/19 1
10-43576221-G-A c.73+3442G>A - IntronicSNV - 1/19 1
10-43576249-A-G c.73+3470A>G - IntronicSNV - 1/19 4
10-43576249-A-T c.73+3470A>T - IntronicSNV - 1/19 4
10-43576567-G-C c.73+3788G>C - IntronicSNV - 1/19 1
10-43576630-G-GC c.73+3859dup - IntronicInsertion - 1/19 1
10-43577026-G-A c.73+4247G>A - IntronicSNV - 1/19 1
10-43577026-G-C c.73+4247G>C - IntronicSNV - 1/19 1
10-43577873-A-T c.73+5094A>T - IntronicSNV - 1/19 1
10-43578779-A-C c.73+6000A>C - IntronicSNV - 1/19 6
10-43578915-T-A c.73+6136T>A - IntronicSNV - 1/19 1
10-43578915-T-G c.73+6136T>G - IntronicSNV - 1/19 1
10-43578953-A-G c.73+6174A>G - IntronicSNV - 1/19 1
10-43579073-C-G c.73+6294C>G - IntronicSNV - 1/19 2
10-43579073-C-T c.73+6294C>T - IntronicSNV - 1/19 2
10-43579530-C-T c.73+6751C>T - IntronicSNV - 1/19 1
10-43579536-G-A c.73+6757G>A - IntronicSNV - 1/19 1
10-43579536-G-C c.73+6757G>C - IntronicSNV - 1/19 1
10-43579592-T-C c.73+6813T>C - IntronicSNV - 1/19 1
10-43580015-A-C c.73+7236A>C - IntronicSNV - 1/19 2
10-43580015-A-G c.73+7236A>G - IntronicSNV - 1/19 2
10-43580215-G-A c.73+7436G>A - IntronicSNV - 1/19 1
10-43580215-G-C c.73+7436G>C - IntronicSNV - 1/19 1
10-43580224-C-A c.73+7445C>A - IntronicSNV - 1/19 1
10-43580773-G-A c.73+7994G>A - IntronicSNV - 1/19 1
10-43580773-G-C c.73+7994G>C - IntronicSNV - 1/19 1
10-43581501-A-G c.73+8722A>G - IntronicSNV - 1/19 1
10-43581661-G-A c.73+8882G>A - IntronicSNV - 1/19 1
10-43581980-C-T c.73+9201C>T - IntronicSNV - 1/19 3
10-43582056-T-C c.73+9277T>C - IntronicSNV - 1/19 88
10-43582273-A-C c.73+9494A>C - IntronicSNV - 1/19 11
10-43582273-A-T c.73+9494A>T - IntronicSNV - 1/19 10
10-43583144-C-T c.73+10365C>T - IntronicSNV - 1/19 1
10-43583150-A-G c.73+10371A>G - IntronicSNV - 1/19 3
10-43583150-A-T c.73+10371A>T - IntronicSNV - 1/19 3
10-43584148-C-T c.73+11369C>T - IntronicSNV - 1/19 3
10-43584256-T-C c.73+11477T>C - IntronicSNV - 1/19 4
10-43584310-AT-A c.73+11533del - IntronicDeletion - 1/19 1
10-43584416-C-T c.74-11491C>T - IntronicSNV - 1/19 2
10-43585621-T-G c.74-10286T>G - IntronicSNV - 1/19 2
10-43585874-T-C c.74-10033T>C - IntronicSNV - 1/19 1
10-43585889-T-C c.74-10018T>C - IntronicSNV - 1/19 1
10-43587859-T-C c.74-8048T>C - IntronicSNV - 1/19 1
10-43588196-G-A c.74-7711G>A - IntronicSNV - 1/19 3
10-43588313-A-G c.74-7594A>G - IntronicSNV - 1/19 4
10-43588381-T-C c.74-7526T>C - IntronicSNV - 1/19 2
10-43588429-C-T c.74-7478C>T - IntronicSNV - 1/19 3
10-43588574-G-C c.74-7333G>C - IntronicSNV - 1/19 1
10-43588574-G-T c.74-7333G>T - IntronicSNV - 1/19 1
10-43588918-A-G c.74-6989A>G - IntronicSNV - 1/19 3
10-43589649-C-A c.74-6258C>A - IntronicSNV - 1/19 1
10-43589649-C-G c.74-6258C>G - IntronicSNV - 1/19 1
10-43589649-C-T c.74-6258C>T - IntronicSNV - 1/19 1
10-43590115-T-C c.74-5792T>C - IntronicSNV - 1/19 4
10-43590240-T-C c.74-5667T>C - IntronicSNV - 1/19 2
10-43590240-T-G c.74-5667T>G - IntronicSNV - 1/19 2
10-43590868-T-C c.74-5039T>C - IntronicSNV - 1/19 1
10-43590868-T-G c.74-5039T>G - IntronicSNV - 1/19 1
10-43590901-G-A c.74-5006G>A - IntronicSNV - 1/19 1
10-43590901-G-C c.74-5006G>C - IntronicSNV - 1/19 1
10-43590901-G-T c.74-5006G>T - IntronicSNV - 1/19 1
10-43591403-A-G c.74-4504A>G - IntronicSNV - 1/19 2
10-43592158-T-C c.74-3749T>C - IntronicSNV - 1/19 1
10-43592204-A-T c.74-3703A>T - IntronicSNV - 1/19 1
10-43592809-G-C c.74-3098G>C - IntronicSNV - 1/19 2
10-43593043-A-G c.74-2864A>G - IntronicSNV - 1/19 6
10-43593256-G-A c.74-2651G>A - IntronicSNV - 1/19 1
10-43594453-T-A c.74-1454T>A - IntronicSNV - 1/19 3
10-43594453-T-C c.74-1454T>C - IntronicSNV - 1/19 3
10-43594545-C-T c.74-1362C>T - IntronicSNV - 1/19 5
10-43594578-G-A c.74-1329G>A - IntronicSNV - 1/19 1
10-43594578-G-C c.74-1329G>C - IntronicSNV - 1/19 1
10-43594617-T-C c.74-1290T>C - IntronicSNV - 1/19 1
10-43595194-C-G c.74-713C>G - IntronicSNV - 1/19 1
10-43595781-G-A c.74-126G>A - IntronicSNV - 1/19 15
10-43595781-G-T c.74-126G>T - IntronicSNV - 1/19 15
10-43595851-G-T c.74-56G>T - IntronicSNV - 1/19 1
10-43595907-T-A c.74T>A p.V25E Missense 2/20 - 2
10-43595909-G-A c.76G>A p.A26T Missense 2/20 - 1
10-43595909-GCA-CAT c.76_78delinsCAT p.A26H Missense 2/20 - 1
10-43595909-GC-AT c.76_77delinsAT p.A26I Missense 2/20 - 1
10-43595909-GCA-TAT c.76_78delinsTAT p.A26Y Missense 2/20 - 2
10-43595909-GCA-TGG c.76_78delinsTGG p.A26W Missense 2/20 - 2
10-43595909-GCA-TGT c.76_78delinsTGT p.A26C Missense 2/20 - 4
10-43595909-GCA-TTT c.76_78delinsTTT p.A26F Missense 2/20 - 3
10-43595909-G-T c.76G>T p.A26S Missense 2/20 - 1
10-43595910-C-A c.77C>A p.A26E Missense 2/20 - 1
10-43595910-C-T c.77C>T p.A26V Missense 2/20 - 5
10-43595912-T-G c.79T>G p.L27V Missense 2/20 - 1
10-43595912-TT-GC c.79_80delinsGC p.L27A Missense 2/20 - 2
10-43595913-T-C c.80T>C p.L27S Missense 2/20 - 1
10-43595915-GGC-TGG c.82_84delinsTGG p.G28W Missense 2/20 - 1
10-43595915-G-T c.82G>T p.G28C Missense 2/20 - 1
10-43595916-G-A c.83G>A p.G28D Missense 2/20 - 1
10-43595917-C-A c.84C>A p.G28= Synonymous 2/20 - 1
10-43595917-C-G c.84C>G p.G28= Synonymous 2/20 - 4
10-43595917-C-T c.84C>T p.G28= Synonymous 2/20 - 1
10-43595918-C-T c.85C>T p.L29F Missense 2/20 - 1
10-43595918-CT-AG c.85_86inv p.L29S Missense 2/20 - 2
10-43595919-T-C c.86T>C p.L29P Missense 2/20 - 2
10-43595920-C-T c.87C>T p.L29= Synonymous 2/20 - 3
10-43595921-TA-GC c.88_89delinsGC p.Y30A Missense 2/20 - 1
10-43595921-T-C c.88T>C p.Y30H Missense 2/20 - 1
10-43595922-A-G c.89A>G p.Y30C Missense 2/20 - 1
10-43595923-C-A c.90C>A p.Y30* Nonsense 2/20 - 1
10-43595924-T-A c.91T>A p.F31I Missense 2/20 - 1
10-43595924-T-C c.91T>C p.F31L Missense 2/20 - 2
10-43595924-T-G c.91T>G p.F31V Missense 2/20 - 2
10-43595928-C-T c.95C>T p.S32L Missense 2/20 - 5
10-43595928-TC-T c.95del p.S32* Frameshift 2/20 - 1
10-43595929-G-A c.96G>A p.S32= Synonymous 2/20 - 3
10-43595929-G-C c.96G>C p.S32= Synonymous 2/20 - 2
10-43595929-G-T c.96G>T p.S32= Synonymous 2/20 - 2
10-43595930-AGG-TGT c.97_99delinsTGT p.R33C Missense 2/20 - 1
10-43595930-A-T c.97A>T p.R33W Missense 2/20 - 3
10-43595931-G-A c.98G>A p.R33K Missense 2/20 - 1
10-43595930-AGG-A c.99_100del p.D34Cfs*27 Frameshift 2/20 - 1
10-43595932-G-A c.99G>A p.R33= Synonymous 2/20 - 2
10-43595933-G-A c.100G>A p.D34N Missense 2/20 - 1
10-43595933-G-T c.100G>T p.D34Y Missense 2/20 - 1
10-43595935-T-A c.102T>A p.D34E Missense 2/20 - 1
10-43595935-T-C c.102T>C p.D34= Synonymous 2/20 - 1
10-43595935-T-G c.102T>G p.D34E Missense 2/20 - 1
10-43595936-G-T c.103G>T p.A35S Missense 2/20 - 1
10-43595939-T-C c.106T>C p.Y36H Missense 2/20 - 1
10-43595940-A-G c.107A>G p.Y36C Missense 2/20 - 2
10-43595943-G-A c.110G>A p.W37* Nonsense 2/20 - 1
10-43595943-G-T c.110G>T p.W37L Missense 2/20 - 1
10-43595944-G-A c.111G>A p.W37* Nonsense 2/20 - 1
10-43595944-G-T c.111G>T p.W37C Missense 2/20 - 3
10-43595945-G-A c.112G>A p.E38K Missense 2/20 - 2
10-43595945-G-T c.112G>T p.E38* Nonsense 2/20 - 1
10-43595946-A-C c.113A>C p.E38A Missense 2/20 - 1
10-43595950-G-C c.117G>C p.K39N Missense 2/20 - 1
10-43595950-G-T c.117G>T p.K39N Missense 2/20 - 1
10-43595951-C-A c.118C>A p.L40M Missense 2/20 - 1
10-43595951-C-T c.118C>T p.L40= Synonymous 2/20 - 1
10-43595952-T-C c.119T>C p.L40P Missense 2/20 - 3
10-43595955-A-G c.122A>G p.Y41C Missense 2/20 - 1
10-43595957-G-A c.124G>A p.V42M Missense 2/20 - 3
10-43595957-GTG-ATC c.124_126delinsATC p.V42I Missense 2/20 - 1
10-43595958-T-A c.125T>A p.V42E Missense 2/20 - 1
10-43595958-T-C c.125T>C p.V42A Missense 2/20 - 2
10-43595958-T-G c.125T>G p.V42G Missense 2/20 - 1
10-43595959-G-A c.126G>A p.V42= Synonymous 2/20 - 1
10-43595960-G-A c.127G>A p.D43N Missense 2/20 - 1
10-43595961-A-T c.128A>T p.D43V Missense 2/20 - 2
10-43595962-C-CA c.129_130insA p.Q44Tfs*18 Frameshift 2/20 - 2
10-43595963-C-A c.130C>A p.Q44K Missense 2/20 - 1
10-43595963-C-T c.130C>T p.Q44* Nonsense 2/20 - 1
10-43595964-A-T c.131A>T p.Q44L Missense 2/20 - 1
10-43595965-G-C c.132G>C p.Q44H Missense 2/20 - 3
10-43595965-G-T c.132G>T p.Q44H Missense 2/20 - 3
10-43595966-G-A c.133G>A p.A45T Missense 2/20 - 6
10-43595966-GC-AA c.133_134delinsAA p.A45K Missense 2/20 - 3
10-43595966-GCA-AAC c.133_135delinsAAC p.A45N Missense 2/20 - 1
10-43595966-GCA-CAT c.133_135delinsCAT p.A45H Missense 2/20 - 2
10-43595966-GC-AT c.133_134delinsAT p.A45I Missense 2/20 - 2
10-43595966-GCA-TGT c.133_135delinsTGT p.A45C Missense 2/20 - 2
10-43595966-GCA-TTT c.133_135delinsTTT p.A45F Missense 2/20 - 2
10-43595967-C-A c.134C>A p.A45E Missense 2/20 - 3
10-43595967-CA-AC c.134_135delinsAC p.A45D Missense 2/20 - 2
10-43595967-C-G c.134C>G p.A45G Missense 2/20 - 1
10-43595967-C-T c.134C>T p.A45V Missense 2/20 - 7
10-43595968-A-C c.135A>C p.A45= Synonymous 2/20 - 78
10-43595968-A-G c.135A>G p.A45= Synonymous 2/20 - 88
10-43595968-A-T c.135A>T p.A45= Synonymous 2/20 - 11
10-43595969-G-C c.136G>C p.A46P Missense 2/20 - 1
10-43595969-GC-CG c.136_137delinsCG p.A46R Missense 2/20 - 1
10-43595969-GC-TA c.136_137delinsTA p.A46Y Missense 2/20 - 5
10-43595969-GC-TT c.136_137delinsTT p.A46F Missense 2/20 - 1
10-43595970-C-A c.137C>A p.A46D Missense 2/20 - 1
10-43595970-CC-AG c.137_138delinsAG p.A46E Missense 2/20 - 2
10-43595970-C-G c.137C>G p.A46G Missense 2/20 - 1
10-43595970-C-T c.137C>T p.A46V Missense 2/20 - 2
10-43595971-C-A c.138C>A p.A46= Synonymous 2/20 - 1
10-43595972-G-A c.139G>A p.G47S Missense 2/20 - 9
10-43595972-G-T c.139G>T p.G47C Missense 2/20 - 3
10-43595973-G-A c.140G>A p.G47D Missense 2/20 - 2
10-43595973-G-C c.140G>C p.G47A Missense 2/20 - 1
10-43595974-C-A c.141C>A p.G47= Synonymous 2/20 - 1
10-43595974-C-G c.141C>G p.G47= Synonymous 2/20 - 1
10-43595974-C-T c.141C>T p.G47= Synonymous 2/20 - 1
10-43595975-A-T c.142A>T p.T48S Missense 2/20 - 1
10-43595976-C-T c.143C>T p.T48M Missense 2/20 - 10
10-43595978-C-G c.145C>G p.P49A Missense 2/20 - 1
10-43595979-C-A c.146C>A p.P49H Missense 2/20 - 2
10-43595979-C-T c.146C>T p.P49L Missense 2/20 - 1
10-43595980-C-A c.147C>A p.P49= Synonymous 2/20 - 1
10-43595980-C-G c.147C>G p.P49= Synonymous 2/20 - 1
10-43595980-C-T c.147C>T p.P49= Synonymous 2/20 - 1
10-43595982-T-A c.149T>A p.L50* Nonsense 2/20 - 1
10-43595983-G-T c.150G>T p.L50F Missense 2/20 - 1
10-43595984-C-A c.151C>A p.L51M Missense 2/20 - 2
10-43595984-C-G c.151C>G p.L51V Missense 2/20 - 1
10-43595985-T-C c.152T>C p.L51P Missense 2/20 - 1
10-43595986-TG-T c.153del p.Y52Tfs*172 Frameshift 2/20 - 1
10-43595989-C-A c.156C>A p.Y52* Nonsense 2/20 - 1
10-43595989-C-T c.156C>T p.Y52= Synonymous 2/20 - 5
10-43595990-G-A c.157G>A p.V53I Missense 2/20 - 5
10-43595990-G-C c.157G>C p.V53L Missense 2/20 - 1
10-43595990-G-T c.157G>T p.V53F Missense 2/20 - 2
10-43595991-TC-AG c.158_159delinsAG p.V53E Missense 2/20 - 1
10-43595991-T-G c.158T>G p.V53G Missense 2/20 - 1
10-43595992-C-T c.159C>T p.V53= Synonymous 2/20 - 3
10-43595991-TC-T c.160del p.H54Mfs*170 Frameshift 2/20 - 1
10-43595994-A-C c.161A>C p.H54P Missense 2/20 - 1
10-43595996-G-A c.163G>A p.A55T Missense 2/20 - 4
10-43595996-G-C c.163G>C p.A55P Missense 2/20 - 1
10-43595996-G-T c.163G>T p.A55S Missense 2/20 - 1
10-43595997-C-T c.164C>T p.A55V Missense 2/20 - 1
10-43595999-C-A c.166C>A p.L56M Missense 2/20 - 31
10-43595999-C-G c.166C>G p.L56V Missense 2/20 - 1
10-43595999-C-T c.166C>T p.L56= Synonymous 2/20 - 4
10-43596000-T-G c.167T>G p.L56R Missense 2/20 - 1
10-43596002-C-A c.169C>A p.R57= Synonymous 2/20 - 1
10-43596002-C-G c.169C>G p.R57G Missense 2/20 - 1
10-43596002-C-T c.169C>T p.R57W Missense 2/20 - 8
10-43596003-G-A c.170G>A p.R57Q Missense 2/20 - 5
10-43596003-GG-AT c.170_171delinsAT p.R57H Missense 2/20 - 1
10-43596005-G-A c.172G>A p.D58N Missense 2/20 - 7
10-43596005-G-T c.172G>T p.D58Y Missense 2/20 - 2
10-43596007-C-A c.174C>A p.D58E Missense 2/20 - 1
10-43596006-ACG-A c.175_176del p.A59Pfs*2 Frameshift 2/20 - 1
10-43596008-G-A c.175G>A p.A59T Missense 2/20 - 6
10-43596008-GC-TG c.175_176delinsTG p.A59C Missense 2/20 - 1
10-43596008-G-T c.175G>T p.A59S Missense 2/20 - 2
10-43596009-C-T c.176C>T p.A59V Missense 2/20 - 2
10-43596011-C-A c.178C>A p.P60T Missense 2/20 - 1
10-43596011-CC-TG c.178_179delinsTG p.P60C Missense 2/20 - 1
10-43596011-C-T c.178C>T p.P60S Missense 2/20 - 2
10-43596014-G-A c.181G>A p.E61K Missense 2/20 - 3
10-43596014-GA-TC c.181_182inv p.E61S Missense 2/20 - 1
10-43596014-G-C c.181G>C p.E61Q Missense 2/20 - 1
10-43596015-A-C c.182A>C p.E61A Missense 2/20 - 2
10-43596015-A-G c.182A>G p.E61G Missense 2/20 - 3
10-43596015-A-T c.182A>T p.E61V Missense 2/20 - 1
10-43596016-G-A c.183G>A p.E61= Synonymous 2/20 - 2
10-43596017-G-A c.184G>A p.E62K Missense 2/20 - 10
10-43596018-A-G c.185A>G p.E62G Missense 2/20 - 1
10-43596018-A-T c.185A>T p.E62V Missense 2/20 - 1
10-43596019-G-T c.186G>T p.E62D Missense 2/20 - 2
10-43596020-G-A c.187G>A p.V63M Missense 2/20 - 4
10-43596020-G-C c.187G>C p.V63L Missense 2/20 - 1
10-43596020-G-T c.187G>T p.V63L Missense 2/20 - 1
10-43596022-G-T c.189G>T p.V63= Synonymous 2/20 - 2
10-43596023-C-A c.190C>A p.P64T Missense 2/20 - 1
10-43596023-CCC-AAG c.190_192delinsAAG p.P64K Missense 2/20 - 3
10-43596023-C-G c.190C>G p.P64A Missense 2/20 - 1
10-43596023-C-T c.190C>T p.P64S Missense 2/20 - 2
10-43596023-GCCC-G c.190_192del p.P64del InFrameDeletion 2/20 - 1
10-43596024-C-A c.191C>A p.P64H Missense 2/20 - 1
10-43596024-C-T c.191C>T p.P64L Missense 2/20 - 3
10-43596025-C-A c.192C>A p.P64= Synonymous 2/20 - 1
10-43596025-C-CT c.192_193insT p.S65* Nonsense 2/20 - 1
10-43596025-C-G c.192C>G p.P64= Synonymous 2/20 - 1
10-43596025-C-T c.192C>T p.P64= Synonymous 2/20 - 1
10-43596026-A-G c.193A>G p.S65G Missense 2/20 - 1
10-43596026-AG-GC c.193_194delinsGC p.S65A Missense 2/20 - 1
10-43596027-G-C c.194G>C p.S65T Missense 2/20 - 2
10-43596027-G-T c.194G>T p.S65I Missense 2/20 - 1
10-43596028-C-A c.195C>A p.S65R Missense 2/20 - 1
10-43596028-C-T c.195C>T p.S65= Synonymous 2/20 - 1
10-43596031-C-T c.198C>T p.F66= Synonymous 2/20 - 5
10-43596032-C-A c.199C>A p.R67S Missense 2/20 - 1
10-43596032-CG-GC c.199_200delinsGC p.R67A Missense 2/20 - 1
10-43596032-C-T c.199C>T p.R67C Missense 2/20 - 2
10-43596033-G-A c.200G>A p.R67H Missense 2/20 - 23
10-43596033-G-GTCC c.200_201insTCC p.R67_L68insP InFrameInsertion 2/20 - 2
10-43596033-G-T c.200G>T p.R67L Missense 2/20 - 1
10-43596034-C-T c.201C>T p.R67= Synonymous 2/20 - 1
10-43596035-C-G c.202C>G p.L68V Missense 2/20 - 1
10-43596035-CTG-GAC c.202_204delinsGAC p.L68D Missense 2/20 - 1
10-43596035-CTG-TTT c.202_204delinsTTT p.L68F Missense 2/20 - 1
10-43596036-T-A c.203T>A p.L68Q Missense 2/20 - 1
10-43596036-T-C c.203T>C p.L68P Missense 2/20 - 1
10-43596036-T-G c.203T>G p.L68R Missense 2/20 - 1
10-43596035-C-T c.202C>T p.L68= Synonymous 2/20 - 2
10-43596037-G-A c.204G>A p.L68= Synonymous 2/20 - 1
10-43596037-G-C c.204G>C p.L68= Synonymous 2/20 - 1
10-43596037-G-T c.204G>T p.L68= Synonymous 2/20 - 2
10-43596038-G-T c.205G>T p.G69C Missense 2/20 - 3
10-43596039-G-A c.206G>A p.G69D Missense 2/20 - 6
10-43596039-GC-AG c.206_207delinsAG p.G69E Missense 2/20 - 1
10-43596040-C-T c.207C>T p.G69= Synonymous 2/20 - 1
10-43596041-C-A c.208C>A p.Q70K Missense 2/20 - 3
10-43596041-CAG-GAC c.208_210delinsGAC p.Q70D Missense 2/20 - 1
10-43596042-A-C c.209A>C p.Q70P Missense 2/20 - 1
10-43596042-A-T c.209A>T p.Q70L Missense 2/20 - 1
10-43596043-G-T c.210G>T p.Q70H Missense 2/20 - 2
10-43596044-C-A c.211C>A p.H71N Missense 2/20 - 1
10-43596047-C-A c.214C>A p.L72I Missense 2/20 - 1
10-43596047-C-G c.214C>G p.L72V Missense 2/20 - 1
10-43596047-C-T c.214C>T p.L72F Missense 2/20 - 1
10-43596048-TC-AA c.215_216delinsAA p.L72Q Missense 2/20 - 1
10-43596050-T-C c.217T>C p.Y73H Missense 2/20 - 1
10-43596051-A-G c.218A>G p.Y73C Missense 2/20 - 1
10-43596052-C-T c.219C>T p.Y73= Synonymous 2/20 - 2
10-43596053-G-A c.220G>A p.G74S Missense 2/20 - 3
10-43596053-G-T c.220G>T p.G74C Missense 2/20 - 1
10-43596054-GC-AG c.221_222delinsAG p.G74E Missense 2/20 - 1
10-43596055-C-T c.222C>T p.G74= Synonymous 2/20 - 1
10-43596057-C-A c.224C>A p.T75K Missense 2/20 - 4
10-43596057-C-T c.224C>T p.T75M Missense 2/20 - 6
10-43596058-G-A c.225G>A p.T75= Synonymous 2/20 - 5
10-43596059-T-C c.226T>C p.Y76H Missense 2/20 - 1
10-43596060-A-G c.227A>G p.Y76C Missense 2/20 - 3
10-43596061-C-T c.228C>T p.Y76= Synonymous 2/20 - 1
10-43596062-C-A c.229C>A p.R77S Missense 2/20 - 2
10-43596062-C-G c.229C>G p.R77G Missense 2/20 - 1
10-43596062-CGC-GAG c.229_231delinsGAG p.R77E Missense 2/20 - 1
10-43596062-CG-TT c.229_230delinsTT p.R77F Missense 2/20 - 1
10-43596062-C-T c.229C>T p.R77C Missense 2/20 - 22
10-43596063-G-A c.230G>A p.R77H Missense 2/20 - 18
10-43596063-GC-AA c.230_231delinsAA p.R77Q Missense 2/20 - 2
10-43596063-G-T c.230G>T p.R77L Missense 2/20 - 15
10-43596067-A-C c.234A>C p.T78= Synonymous 2/20 - 1
10-43596067-A-G c.234A>G p.T78= Synonymous 2/20 - 1
10-43596067-A-T c.234A>T p.T78= Synonymous 2/20 - 1
10-43596068-CGG-TGT c.235_237delinsTGT p.R79C Missense 2/20 - 1
10-43596068-C-T c.235C>T p.R79W Missense 2/20 - 6
10-43596069-G-A c.236G>A p.R79Q Missense 2/20 - 10
10-43596069-GG-AT c.236_237delinsAT p.R79H Missense 2/20 - 1
10-43596069-G-T c.236G>T p.R79L Missense 2/20 - 2
10-43596070-G-A c.237G>A p.R79= Synonymous 2/20 - 1
10-43596070-G-T c.237G>T p.R79= Synonymous 2/20 - 2
10-43596072-T-A c.239T>A p.L80Q Missense 2/20 - 4
10-43596074-C-T c.241C>T p.H81Y Missense 2/20 - 1
10-43596076-T-C c.243T>C p.H81= Synonymous 2/20 - 1
10-43596077-G-A c.244G>A p.E82K Missense 2/20 - 4
10-43596077-G-C c.244G>C p.E82Q Missense 2/20 - 1
10-43596077-G-T c.244G>T p.E82* Nonsense 2/20 - 1
10-43596078-A-G c.245A>G p.E82G Missense 2/20 - 2
10-43596079-G-C c.246G>C p.E82D Missense 2/20 - 1
10-43596079-G-T c.246G>T p.E82D Missense 2/20 - 1
10-43596081-A-T c.248A>T p.N83I Missense 2/20 - 1
10-43596082-C-CT c.249_250insT p.N84* Nonsense 2/20 - 1
10-43596082-C-CA c.251dup p.N84Kfs*15 Frameshift 2/20 - 1
10-43596084-A-C c.251A>C p.N84T Missense 2/20 - 1
10-43596084-A-G c.251A>G p.N84S Missense 2/20 - 4
10-43596085-C-T c.252C>T p.N84= Synonymous 2/20 - 1
10-43596086-T-G c.253T>G p.W85G Missense 2/20 - 2
10-43596087-G-A c.254G>A p.W85* Nonsense 2/20 - 11
10-43596088-G-A c.255G>A p.W85* Nonsense 2/20 - 5
10-43596089-A-G c.256A>G p.I86V Missense 2/20 - 1
10-43596090-T-C c.257T>C p.I86T Missense 2/20 - 1
10-43596091-C-A c.258C>A p.I86= Synonymous 2/20 - 1
10-43596091-C-G c.258C>G p.I86M Missense 2/20 - 3
10-43596092-T-C c.259T>C p.C87R Missense 2/20 - 2
10-43596092-TGC-GAG c.259_261delinsGAG p.C87E Missense 2/20 - 1
10-43596093-G-A c.260G>A p.C87Y Missense 2/20 - 2
10-43596093-G-T c.260G>T p.C87F Missense 2/20 - 1
10-43596094-C-T c.261C>T p.C87= Synonymous 2/20 - 1
10-43596095-A-G c.262A>G p.I88V Missense 2/20 - 6
10-43596095-ATC-TGG c.262_264delinsTGG p.I88W Missense 2/20 - 1
10-43596097-C-A c.264C>A p.I88= Synonymous 2/20 - 1
10-43596097-C-T c.264C>T p.I88= Synonymous 2/20 - 4
10-43596099-A-C c.266A>C p.Q89P Missense 2/20 - 1
10-43596101-G-A c.268G>A p.E90K Missense 2/20 - 8
10-43596101-GA-AG c.268_269delinsAG p.E90R Missense 2/20 - 2
10-43596101-GA-CC c.268_269delinsCC p.E90P Missense 2/20 - 1
10-43596101-G-C c.268G>C p.E90Q Missense 2/20 - 1
10-43596102-A-C c.269A>C p.E90A Missense 2/20 - 1
10-43596102-A-G c.269A>G p.E90G Missense 2/20 - 1
10-43596104-GA-TG c.271_272delinsTG p.D91C Missense 2/20 - 1
10-43596105-A-C c.272A>C p.D91A Missense 2/20 - 1
10-43596107-A-C c.274A>C p.T92P Missense 2/20 - 1
10-43596107-A-G c.274A>G p.T92A Missense 2/20 - 1
10-43596107-A-T c.274A>T p.T92S Missense 2/20 - 2
10-43596108-C-A c.275C>A p.T92N Missense 2/20 - 1
10-43596108-C-G c.275C>G p.T92S Missense 2/20 - 2
10-43596108-C-T c.275C>T p.T92I Missense 2/20 - 4
10-43596110-G-A c.277G>A p.G93S Missense 2/20 - 9
10-43596111-G-A c.278G>A p.G93D Missense 2/20 - 3
10-43596111-G-C c.278G>C p.G93A Missense 2/20 - 18
10-43596113-C-T c.280C>T p.L94F Missense 2/20 - 1
10-43596113-CT-GC c.280_281delinsGC p.L94A Missense 2/20 - 1
10-43596114-T-C c.281T>C p.L94P Missense 2/20 - 1
10-43596115-C-A c.282C>A p.L94= Synonymous 2/20 - 1
10-43596115-C-T c.282C>T p.L94= Synonymous 2/20 - 1
10-43596116-C-G c.283C>G p.L95V Missense 2/20 - 1
10-43596116-C-T c.283C>T p.L95F Missense 2/20 - 1
10-43596117-T-C c.284T>C p.L95P Missense 2/20 - 1
10-43596119-T-G c.286T>G p.Y96D Missense 2/20 - 1
10-43596120-A-C c.287A>C p.Y96S Missense 2/20 - 2
10-43596120-A-G c.287A>G p.Y96C Missense 2/20 - 2
10-43596121-C-T c.288C>T p.Y96= Synonymous 2/20 - 1
10-43596122-CT-GC c.289_290delinsGC p.L97A Missense 2/20 - 1
10-43596126-A-C c.293A>C p.N98T Missense 2/20 - 1
10-43596127-C-A c.294C>A p.N98K Missense 2/20 - 1
10-43596127-C-CA c.294_295insA p.R99Tfs*6 Frameshift 2/20 - 1
10-43596127-C-G c.294C>G p.N98K Missense 2/20 - 1
10-43596128-C-T c.295C>T p.R99W Missense 2/20 - 6
10-43596129-G-A c.296G>A p.R99Q Missense 2/20 - 4
10-43596130-G-A c.297G>A p.R99= Synonymous 2/20 - 1
10-43596131-AG-CC c.298_299delinsCC p.S100P Missense 2/20 - 17
10-43596131-AGC-TGA c.298_300delinsTGA p.S100* Nonsense 2/20 - 1
10-43596131-AG-GC c.298_299delinsGC p.S100A Missense 2/20 - 3
10-43596131-A-T c.298A>T p.S100C Missense 2/20 - 2
10-43596133-C-T c.300C>T p.S100= Synonymous 2/20 - 1
10-43596134-CTG-ATC c.301_303delinsATC p.L101I Missense 2/20 - 1
10-43596135-T-A c.302T>A p.L101Q Missense 2/20 - 1
10-43596135-T-C c.302T>C p.L101P Missense 2/20 - 1
10-43596135-T-G c.302T>G p.L101R Missense 2/20 - 2
10-43596137-G-A c.304G>A p.D102N Missense 2/20 - 2
10-43596138-A-G c.305A>G p.D102G Missense 2/20 - 1
10-43596138-A-T c.305A>T p.D102V Missense 2/20 - 1
10-43596139-C-G c.306C>G p.D102E Missense 2/20 - 1
10-43596140-C-A c.307C>A p.H103N Missense 2/20 - 2
10-43596141-A-G c.308A>G p.H103R Missense 2/20 - 1
10-43596142-T-A c.309T>A p.H103Q Missense 2/20 - 1
10-43596142-T-G c.309T>G p.H103Q Missense 2/20 - 1
10-43596143-A-G c.310A>G p.S104G Missense 2/20 - 1
10-43596143-AG-TT c.310_311delinsTT p.S104F Missense 2/20 - 1
10-43596143-A-C c.310A>C p.S104R Missense 2/20 - 1
10-43596145-C-A c.312C>A p.S104R Missense 2/20 - 1
10-43596145-C-G c.312C>G p.S104R Missense 2/20 - 1
10-43596146-T-C c.313T>C p.S105P Missense 2/20 - 1
10-43596146-T-G c.313T>G p.S105A Missense 2/20 - 1
10-43596147-C-A c.314C>A p.S105Y Missense 2/20 - 1
10-43596147-CC-AA c.314_315delinsAA p.S105* Nonsense 2/20 - 1
10-43596147-C-T c.314C>T p.S105F Missense 2/20 - 7
10-43596148-C-T c.315C>T p.S105= Synonymous 2/20 - 2
10-43596149-T-A c.316T>A p.W106R Missense 2/20 - 1
10-43596149-T-C c.316T>C p.W106R Missense 2/20 - 1
10-43596150-G-A c.317G>A p.W106* Nonsense 2/20 - 1
10-43596150-G-T c.317G>T p.W106L Missense 2/20 - 1
10-43596151-G-C c.318G>C p.W106C Missense 2/20 - 1
10-43596151-G-T c.318G>T p.W106C Missense 2/20 - 3
10-43596152-G-A c.319G>A p.E107K Missense 2/20 - 2
10-43596154-G-A c.321G>A p.E107= Synonymous 2/20 - 1
10-43596154-G-T c.321G>T p.E107D Missense 2/20 - 1
10-43596155-A-C c.322A>C p.K108Q Missense 2/20 - 1
10-43596157-G-C c.324G>C p.K108N Missense 2/20 - 1
10-43596157-G-T c.324G>T p.K108N Missense 2/20 - 1
10-43596158-C-A c.325C>A p.L109I Missense 2/20 - 4
10-43596158-C-T c.325C>T p.L109F Missense 2/20 - 1
10-43596159-T-A c.326T>A p.L109H Missense 2/20 - 2
10-43596161-A-G c.328A>G p.S110G Missense 2/20 - 1
10-43596161-A-T c.328A>T p.S110C Missense 2/20 - 1
10-43596162-G-A c.329G>A p.S110N Missense 2/20 - 2
10-43596162-G-T c.329G>T p.S110I Missense 2/20 - 3
10-43596164-G-C c.331G>C p.V111L Missense 2/20 - 1
10-43596164-G-T c.331G>T p.V111F Missense 2/20 - 2
10-43596165-T-A c.332T>A p.V111D Missense 2/20 - 1
10-43596166-C-G c.333C>G p.V111= Synonymous 2/20 - 1
10-43596167-C-G c.334C>G p.R112G Missense 2/20 - 1
10-43596167-CGC-TGG c.334_336delinsTGG p.R112W Missense 2/20 - 1
10-43596167-C-T c.334C>T p.R112C Missense 2/20 - 1
10-43596165-TCCGCAGTAAGGGAGCCGCCCCAACACCCACCCCGTGCCCCACCCCACCCCTTCCTCAAG-T c.337_337+58del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/20 2/19 1
10-43596168-G-A c.335G>A p.R112H Missense 2/20 - 5
10-43596168-GC-AA c.335_336delinsAA p.R112Q Missense 2/20 - 6
10-43596168-G-T c.335G>T p.R112L Missense 2/20 - 2
10-43596170-A-C c.337A>C p.N113H Missense 2/20 - 1
10-43596171-G-T c.337+1G>T - IntronicSNV - 2/19 1
10-43596179-G-A c.337+9G>A - IntronicSNV - 2/19 18
10-43596181-C-T c.337+11C>T - IntronicSNV - 2/19 2
10-43596191-C-A c.337+21C>A - IntronicSNV - 2/19 1
10-43596190-A-AC c.337+23dup - IntronicInsertion - 2/19 1
10-43596194-A-C c.337+24A>C - IntronicSNV - 2/19 2
10-43596199-G-C c.337+29G>C - IntronicSNV - 2/19 1
10-43596200-T-G c.337+30T>G - IntronicSNV - 2/19 1
10-43596204-C-T c.337+34C>T - IntronicSNV - 2/19 1
10-43596206-A-C c.337+36A>C - IntronicSNV - 2/19 2
10-43596210-C-T c.337+40C>T - IntronicSNV - 2/19 1
10-43596211-A-C c.337+41A>C - IntronicSNV - 2/19 2
10-43596216-T-C c.337+46T>C - IntronicSNV - 2/19 1
10-43596227-G-A c.337+57G>A - IntronicSNV - 2/19 1
10-43596307-G-T c.337+137G>T - IntronicSNV - 2/19 2
10-43596728-C-T c.337+558C>T - IntronicSNV - 2/19 1
10-43597791-C-T c.339C>T p.N113= Synonymous 3/20 - 1
10-43597792-C-A c.340C>A p.R114S Missense 3/20 - 3
10-43597792-C-T c.340C>T p.R114C Missense 3/20 - 10
10-43597793-G-A c.341G>A p.R114H Missense 3/20 - 39
10-43597793-G-C c.341G>C p.R114P Missense 3/20 - 1
10-43597793-GC-AA c.341_342delinsAA p.R114Q Missense 3/20 - 2
10-43597793-G-T c.341G>T p.R114L Missense 3/20 - 1
10-43597794-C-A c.342C>A p.R114= Synonymous 3/20 - 2
10-43597794-C-T c.342C>T p.R114= Synonymous 3/20 - 1
10-43597794-GC-G c.342del p.G115Afs*109 Frameshift 3/20 - 1
10-43597795-G-A c.343G>A p.G115S Missense 3/20 - 5
10-43597795-G-T c.343G>T p.G115C Missense 3/20 - 1
10-43597797-C-A c.345C>A p.G115= Synonymous 3/20 - 1
10-43597797-C-G c.345C>G p.G115= Synonymous 3/20 - 1
10-43597797-C-T c.345C>T p.G115= Synonymous 3/20 - 1
10-43597801-C-A c.349C>A p.P117T Missense 3/20 - 16
10-43597801-C-T c.349C>T p.P117S Missense 3/20 - 3
10-43597802-C-A c.350C>A p.P117H Missense 3/20 - 2
10-43597802-C-T c.350C>T p.P117L Missense 3/20 - 2
10-43597803-C-G c.351C>G p.P117= Synonymous 3/20 - 1
10-43597803-C-T c.351C>T p.P117= Synonymous 3/20 - 2
10-43597800-TC-T c.352del p.L118Cfs*106 Frameshift 3/20 - 1
10-43597804-C-G c.352C>G p.L118V Missense 3/20 - 1
10-43597805-T-C c.353T>C p.L118P Missense 3/20 - 1
10-43597806-G-A c.354G>A p.L118= Synonymous 3/20 - 1
10-43597807-C-A c.355C>A p.L119I Missense 3/20 - 1
10-43597807-C-G c.355C>G p.L119V Missense 3/20 - 1
10-43597807-C-T c.355C>T p.L119F Missense 3/20 - 2
10-43597808-T-A c.356T>A p.L119H Missense 3/20 - 1
10-43597810-A-T c.358A>T p.T120S Missense 3/20 - 2
10-43597811-C-G c.359C>G p.T120S Missense 3/20 - 2
10-43597811-C-T c.359C>T p.T120I Missense 3/20 - 1
10-43597813-G-A c.361G>A p.V121I Missense 3/20 - 3
10-43597816-T-G c.364T>G p.Y122D Missense 3/20 - 1
10-43597819-CTC-TGG c.367_369delinsTGG p.L123W Missense 3/20 - 1
10-43597821-C-A c.369C>A p.L123= Synonymous 3/20 - 1
10-43597821-C-G c.369C>G p.L123= Synonymous 3/20 - 1
10-43597821-C-T c.369C>T p.L123= Synonymous 3/20 - 1
10-43597823-A-T c.371A>T p.K124M Missense 3/20 - 1
10-43597824-G-A c.372G>A p.K124= Synonymous 3/20 - 1
10-43597825-G-A c.373G>A p.V125I Missense 3/20 - 1
10-43597826-T-C c.374T>C p.V125A Missense 3/20 - 1
10-43597827-C-A c.375C>A p.V125= Synonymous 3/20 - 12
10-43597827-C-G c.375C>G p.V125= Synonymous 3/20 - 2
10-43597827-C-T c.375C>T p.V125= Synonymous 3/20 - 2
10-43597829-T-A c.377T>A p.F126Y Missense 3/20 - 1
10-43597829-T-G c.377T>G p.F126C Missense 3/20 - 1
10-43597834-T-G c.382T>G p.S128A Missense 3/20 - 2
10-43597835-C-T c.383C>T p.S128L Missense 3/20 - 2
10-43597836-CA-C c.384del p.T130Hfs*94 Frameshift 3/20 - 1
10-43597837-C-T c.385C>T p.P129S Missense 3/20 - 3
10-43597838-C-A c.386C>A p.P129H Missense 3/20 - 1
10-43597838-C-T c.386C>T p.P129L Missense 3/20 - 2
10-43597839-C-A c.387C>A p.P129= Synonymous 3/20 - 1
10-43597839-C-G c.387C>G p.P129= Synonymous 3/20 - 1
10-43597840-A-G c.388A>G p.T130A Missense 3/20 - 1
10-43597841-C-T c.389C>T p.T130I Missense 3/20 - 2
10-43597843-T-C c.391T>C p.S131P Missense 3/20 - 1
10-43597843-TC-AA c.391_392delinsAA p.S131N Missense 3/20 - 1
10-43597844-C-G c.392C>G p.S131C Missense 3/20 - 1
10-43597844-C-T c.392C>T p.S131F Missense 3/20 - 1
10-43597845-C-A c.393C>A p.S131= Synonymous 3/20 - 2
10-43597845-C-T c.393C>T p.S131= Synonymous 3/20 - 3
10-43597846-C-T c.394C>T p.L132F Missense 3/20 - 1
10-43597847-T-C c.395T>C p.L132P Missense 3/20 - 2
10-43597847-T-G c.395T>G p.L132R Missense 3/20 - 1
10-43597849-CGT-TGG c.397_399delinsTGG p.R133W Missense 3/20 - 1
10-43597849-C-T c.397C>T p.R133C Missense 3/20 - 19
10-43597850-G-A c.398G>A p.R133H Missense 3/20 - 7
10-43597850-G-T c.398G>T p.R133L Missense 3/20 - 2
10-43597851-T-A c.399T>A p.R133= Synonymous 3/20 - 1
10-43597851-T-C c.399T>C p.R133= Synonymous 3/20 - 1
10-43597851-T-G c.399T>G p.R133= Synonymous 3/20 - 1
10-43597852-GAG-TGT c.400_402delinsTGT p.E134C Missense 3/20 - 1
10-43597852-G-C c.400G>C p.E134Q Missense 3/20 - 1
10-43597854-G-A c.402G>A p.E134= Synonymous 3/20 - 1
10-43597854-G-C c.402G>C p.E134D Missense 3/20 - 1
10-43597854-G-T c.402G>T p.E134D Missense 3/20 - 1
10-43597856-G-A c.404G>A p.G135D Missense 3/20 - 1
10-43597857-C-A c.405C>A p.G135= Synonymous 3/20 - 2
10-43597857-C-G c.405C>G p.G135= Synonymous 3/20 - 2
10-43597857-C-T c.405C>T p.G135= Synonymous 3/20 - 2
10-43597858-G-A c.406G>A p.E136K Missense 3/20 - 9
10-43597861-GT-G c.409del p.C137Afs*87 Frameshift 3/20 - 1
10-43597861-T-G c.409T>G p.C137G Missense 3/20 - 2
10-43597861-TG-AC c.409_410delinsAC p.C137T Missense 3/20 - 1
10-43597862-G-T c.410G>T p.C137F Missense 3/20 - 1
10-43597863-C-A c.411C>A p.C137* Nonsense 3/20 - 1
10-43597863-C-T c.411C>T p.C137= Synonymous 3/20 - 2
10-43597866-G-A c.414G>A p.Q138= Synonymous 3/20 - 1
10-43597867-T-G c.415T>G p.W139G Missense 3/20 - 1
10-43597868-G-A c.416G>A p.W139* Nonsense 3/20 - 2
10-43597868-G-T c.416G>T p.W139L Missense 3/20 - 2
10-43597869-G-A c.417G>A p.W139* Nonsense 3/20 - 1
10-43597867-T-TG c.417dup p.P140Afs*71 Frameshift 3/20 - 2
10-43597869-G-C c.417G>C p.W139C Missense 3/20 - 2
10-43597869-G-T c.417G>T p.W139C Missense 3/20 - 1
10-43597870-C-A c.418C>A p.P140T Missense 3/20 - 1
10-43597870-CC-AA c.418_419delinsAA p.P140K Missense 3/20 - 1
10-43597870-C-T c.418C>T p.P140S Missense 3/20 - 1
10-43597871-C-T c.419C>T p.P140L Missense 3/20 - 3
10-43597872-A-G c.420A>G p.P140= Synonymous 3/20 - 1
10-43597873-G-A c.421G>A p.G141S Missense 3/20 - 2
10-43597873-G-T c.421G>T p.G141C Missense 3/20 - 2
10-43597874-G-A c.422G>A p.G141D Missense 3/20 - 1
10-43597874-GC-AG c.422_423delinsAG p.G141E Missense 3/20 - 1
10-43597875-C-A c.423C>A p.G141= Synonymous 3/20 - 1
10-43597875-C-G c.423C>G p.G141= Synonymous 3/20 - 1
10-43597875-C-T c.423C>T p.G141= Synonymous 3/20 - 2
10-43597876-T-A c.424T>A p.C142S Missense 3/20 - 4
10-43597877-G-C c.425G>C p.C142S Missense 3/20 - 4
10-43597877-G-A c.425G>A p.C142Y Missense 3/20 - 2
10-43597879-G-A c.427G>A p.A143T Missense 3/20 - 2
10-43597879-GCC-ATG c.427_429delinsATG p.A143M Missense 3/20 - 3
10-43597879-G-T c.427G>T p.A143S Missense 3/20 - 1
10-43597880-C-A c.428C>A p.A143D Missense 3/20 - 2
10-43597880-C-T c.428C>T p.A143V Missense 3/20 - 4
10-43597882-C-A c.430C>A p.R144S Missense 3/20 - 1
10-43597882-CGC-AAG c.430_432delinsAAG p.R144K Missense 3/20 - 1
10-43597882-CGC-GAG c.430_432delinsGAG p.R144E Missense 3/20 - 1
10-43597882-CGC-TGA c.430_432delinsTGA p.R144* Nonsense 3/20 - 1
10-43597882-C-T c.430C>T p.R144C Missense 3/20 - 2
10-43597883-G-A c.431G>A p.R144H Missense 3/20 - 10
10-43597885-G-A c.433G>A p.V145I Missense 3/20 - 2
10-43597885-G-C c.433G>C p.V145L Missense 3/20 - 3
10-43597885-G-T c.433G>T p.V145L Missense 3/20 - 2
10-43597885-GTA-ATG c.433_435delinsATG p.V145M Missense 3/20 - 1
10-43597886-T-G c.434T>G p.V145G Missense 3/20 - 10
10-43597888-T-C c.436T>C p.Y146H Missense 3/20 - 2
10-43597889-A-G c.437A>G p.Y146C Missense 3/20 - 1
10-43597889-A-T c.437A>T p.Y146F Missense 3/20 - 1
10-43597890-C-A c.438C>A p.Y146* Nonsense 3/20 - 1
10-43597889-ACTT-A c.440_442del p.F147del InFrameDeletion 3/20 - 4
10-43597894-T-A c.442T>A p.S148T Missense 3/20 - 1
10-43597894-TC-GG c.442_443delinsGG p.S148G Missense 3/20 - 1
10-43597892-TCTC-T c.443_445del p.S148del InFrameDeletion 3/20 - 7
10-43597895-C-T c.443C>T p.S148F Missense 3/20 - 7
10-43597899-C-T c.447C>T p.F149= Synonymous 3/20 - 2
10-43597895-CCTT-C c.448_450del p.F150del InFrameDeletion 3/20 - 1
10-43597903-A-G c.451A>G p.N151D Missense 3/20 - 1
10-43597904-A-G c.452A>G p.N151S Missense 3/20 - 5
10-43597906-A-T c.454A>T p.T152S Missense 3/20 - 1
10-43597907-C-T c.455C>T p.T152I Missense 3/20 - 2
10-43597909-T-A c.457T>A p.S153T Missense 3/20 - 1
10-43597909-T-G c.457T>G p.S153A Missense 3/20 - 1
10-43597910-C-A c.458C>A p.S153Y Missense 3/20 - 1
10-43597910-C-T c.458C>T p.S153F Missense 3/20 - 2
10-43597911-C-T c.459C>T p.S153= Synonymous 3/20 - 1
10-43597915-C-T c.463C>T p.P155S Missense 3/20 - 4
10-43597916-C-T c.464C>T p.P155L Missense 3/20 - 5
10-43597917-A-C c.465A>C p.P155= Synonymous 3/20 - 1
10-43597917-A-G c.465A>G p.P155= Synonymous 3/20 - 1
10-43597917-A-T c.465A>T p.P155= Synonymous 3/20 - 1
10-43597918-G-T c.466G>T p.A156S Missense 3/20 - 3
10-43597920-C-T c.468C>T p.A156= Synonymous 3/20 - 3
10-43597921-T-C c.469T>C p.C157R Missense 3/20 - 1
10-43597921-TG-AC c.469_470delinsAC p.C157T Missense 3/20 - 1
10-43597922-G-A c.470G>A p.C157Y Missense 3/20 - 5
10-43597923-C-A c.471C>A p.C157* Nonsense 3/20 - 1
10-43597924-AG-CT c.472_473inv p.S158L Missense 3/20 - 1
10-43597924-AG-TT c.472_473delinsTT p.S158F Missense 3/20 - 1
10-43597925-G-A c.473G>A p.S158N Missense 3/20 - 3
10-43597926-C-T c.474C>T p.S158= Synonymous 3/20 - 3
10-43597927-T-A c.475T>A p.S159T Missense 3/20 - 1
10-43597929-C-T c.477C>T p.S159= Synonymous 3/20 - 2
10-43597931-T-A c.479T>A p.L160H Missense 3/20 - 2
10-43597933-A-G c.481A>G p.K161E Missense 3/20 - 1
10-43597935-G-A c.483G>A p.K161= Synonymous 3/20 - 1
10-43597936-C-T c.484C>T p.P162S Missense 3/20 - 2
10-43597937-C-T c.485C>T p.P162L Missense 3/20 - 1
10-43597939-C-A c.487C>A p.R163= Synonymous 3/20 - 1
10-43597939-C-G c.487C>G p.R163G Missense 3/20 - 1
10-43597939-CGG-TGT c.487_489delinsTGT p.R163C Missense 3/20 - 1
10-43597939-C-T c.487C>T p.R163W Missense 3/20 - 5
10-43597941-G-A c.489G>A p.R163= Synonymous 3/20 - 1
10-43597941-G-C c.489G>C p.R163= Synonymous 3/20 - 1
10-43597941-G-T c.489G>T p.R163= Synonymous 3/20 - 1
10-43597940-G-A c.488G>A p.R163Q Missense 3/20 - 6
10-43597940-G-C c.488G>C p.R163P Missense 3/20 - 1
10-43597940-GG-AT c.488_489delinsAT p.R163H Missense 3/20 - 3
10-43597942-G-A c.490G>A p.E164K Missense 3/20 - 3
10-43597942-G-C c.490G>C p.E164Q Missense 3/20 - 1
10-43597942-G-T c.490G>T p.E164* Nonsense 3/20 - 2
10-43597947-C-G c.495C>G p.L165= Synonymous 3/20 - 1
10-43597949-G-A c.497G>A p.C166Y Missense 3/20 - 1
10-43597949-G-GC c.498dup p.F167Lfs*44 Frameshift 3/20 - 1
10-43597950-C-T c.498C>T p.C166= Synonymous 3/20 - 1
10-43597951-TTC-CTT c.499_501delinsCTT p.F167L Missense 3/20 - 1
10-43597953-C-T c.501C>T p.F167= Synonymous 3/20 - 1
10-43597954-C-A c.502C>A p.P168T Missense 3/20 - 1
10-43597954-C-T c.502C>T p.P168S Missense 3/20 - 1
10-43597955-C-A c.503C>A p.P168Q Missense 3/20 - 1
10-43597957-G-A c.505G>A p.E169K Missense 3/20 - 1
10-43597957-G-C c.505G>C p.E169Q Missense 3/20 - 1
10-43597957-G-T c.505G>T p.E169* Nonsense 3/20 - 1
10-43597958-A-G c.506A>G p.E169G Missense 3/20 - 1
10-43597959-G-A c.507G>A p.E169= Synonymous 3/20 - 1
10-43597960-ACA-GCAAAG c.508_510delinsGCAAAG p.T170delinsAK MultiAAMissense 3/20 - 1
10-43597960-A-G c.508A>G p.T170A Missense 3/20 - 2
10-43597961-CA-TG c.509_510inv p.T170M Missense 3/20 - 2
10-43597961-C-CA c.511dup p.R171Kfs*40 Frameshift 3/20 - 1
10-43597963-AG-CA c.511_512delinsCA p.R171Q Missense 3/20 - 3
10-43597963-AG-CC c.511_512delinsCC p.R171P Missense 3/20 - 1
10-43597963-AG-TA c.511_512delinsTA p.R171* Nonsense 3/20 - 1
10-43597964-G-A c.512G>A p.R171K Missense 3/20 - 5
10-43597964-G-T c.512G>T p.R171M Missense 3/20 - 1
10-43597965-G-A c.513G>A p.R171= Synonymous 3/20 - 1
10-43597966-C-T c.514C>T p.P172S Missense 3/20 - 2
10-43597967-C-A c.515C>A p.P172H Missense 3/20 - 1
10-43597967-C-G c.515C>G p.P172R Missense 3/20 - 1
10-43597967-C-T c.515C>T p.P172L Missense 3/20 - 2
10-43597968-C-A c.516C>A p.P172= Synonymous 3/20 - 1
10-43597968-C-G c.516C>G p.P172= Synonymous 3/20 - 2
10-43597968-C-T c.516C>T p.P172= Synonymous 3/20 - 2
10-43597970-C-T c.518C>T p.S173F Missense 3/20 - 1
10-43597972-T-C c.520T>C p.F174L Missense 3/20 - 1
10-43597974-C-A c.522C>A p.F174L Missense 3/20 - 1
10-43597974-C-G c.522C>G p.F174L Missense 3/20 - 1
10-43597973-T-A c.521T>A p.F174Y Missense 3/20 - 1
10-43597973-T-C c.521T>C p.F174S Missense 3/20 - 4
10-43597973-TCCG-T c.523_525del p.R175del InFrameDeletion 3/20 - 1
10-43597975-CGC-GAG c.523_525delinsGAG p.R175E Missense 3/20 - 1
10-43597975-CGC-TGA c.523_525delinsTGA p.R175* Nonsense 3/20 - 1
10-43597975-CG-GC c.523_524delinsGC p.R175A Missense 3/20 - 2
10-43597975-C-T c.523C>T p.R175C Missense 3/20 - 4
10-43597976-G-A c.524G>A p.R175H Missense 3/20 - 15
10-43597976-G-C c.524G>C p.R175P Missense 3/20 - 4
10-43597979-T-C c.527T>C p.I176T Missense 3/20 - 2
10-43597981-C-G c.529C>G p.R177G Missense 3/20 - 1
10-43597981-CGG-AGC c.529_531delinsAGC p.R177S Missense 3/20 - 1
10-43597981-CG-TA c.529_530delinsTA p.R177* Nonsense 3/20 - 1
10-43597981-C-T c.529C>T p.R177W Missense 3/20 - 9
10-43597982-G-A c.530G>A p.R177Q Missense 3/20 - 12
10-43597984-G-A c.532G>A p.E178K Missense 3/20 - 1
10-43597984-G-C c.532G>C p.E178Q Missense 3/20 - 1
10-43597985-A-C c.533A>C p.E178A Missense 3/20 - 1
10-43597985-A-G c.533A>G p.E178G Missense 3/20 - 2
10-43597985-A-T c.533A>T p.E178V Missense 3/20 - 1
10-43597986-G-T c.534G>T p.E178D Missense 3/20 - 1
10-43597988-A-G c.536A>G p.N179S Missense 3/20 - 1
10-43597989-C-T c.537C>T p.N179= Synonymous 3/20 - 1
10-43597990-C-G c.538C>G p.R180G Missense 3/20 - 1
10-43597990-CGA-TGG c.538_540delinsTGG p.R180W Missense 3/20 - 1
10-43597990-C-T c.538C>T p.R180* Nonsense 3/20 - 5
10-43597991-G-A c.539G>A p.R180Q Missense 3/20 - 8
10-43597991-GA-AT c.539_540delinsAT p.R180H Missense 3/20 - 1
10-43597991-G-C c.539G>C p.R180P Missense 3/20 - 5
10-43597991-G-T c.539G>T p.R180L Missense 3/20 - 1
10-43597993-C-T c.541C>T p.P181S Missense 3/20 - 2
10-43597994-C-A c.542C>A p.P181H Missense 3/20 - 1
10-43597994-C-T c.542C>T p.P181L Missense 3/20 - 2
10-43597995-C-A c.543C>A p.P181= Synonymous 3/20 - 1
10-43597995-C-G c.543C>G p.P181= Synonymous 3/20 - 1
10-43597995-C-T c.543C>T p.P181= Synonymous 3/20 - 1
10-43597996-C-T c.544C>T p.P182S Missense 3/20 - 8
10-43597997-C-G c.545C>G p.P182R Missense 3/20 - 1
10-43597997-C-T c.545C>T p.P182L Missense 3/20 - 1
10-43598000-G-A c.548G>A p.G183D Missense 3/20 - 3
10-43598000-G-T c.548G>T p.G183V Missense 3/20 - 2
10-43598002-A-G c.550A>G p.T184A Missense 3/20 - 1
10-43598004-C-T c.552C>T p.T184= Synonymous 3/20 - 1
10-43598005-T-C c.553T>C p.F185L Missense 3/20 - 1
10-43598005-TTC-AAG c.553_555delinsAAG p.F185K Missense 3/20 - 1
10-43598007-C-T c.555C>T p.F185= Synonymous 3/20 - 1
10-43598008-C-T c.556C>T p.H186Y Missense 3/20 - 1
10-43598011-C-A c.559C>A p.Q187K Missense 3/20 - 1
10-43598011-C-T c.559C>T p.Q187* Nonsense 3/20 - 2
10-43598012-A-T c.560A>T p.Q187L Missense 3/20 - 1
10-43598015-T-C c.563T>C p.F188S Missense 3/20 - 1
10-43598016-C-T c.564C>T p.F188= Synonymous 3/20 - 1
10-43598015-TC-T c.565del p.R189Afs*35 Frameshift 3/20 - 1
10-43598017-C-A c.565C>A p.R189S Missense 3/20 - 2
10-43598017-CG-TA c.565_566delinsTA p.R189Y Missense 3/20 - 1
10-43598017-C-T c.565C>T p.R189C Missense 3/20 - 2
10-43598018-G-A c.566G>A p.R189H Missense 3/20 - 7
10-43598018-G-T c.566G>T p.R189L Missense 3/20 - 1
10-43598020-C-A c.568C>A p.L190M Missense 3/20 - 1
10-43598022-G-C c.570G>C p.L190= Synonymous 3/20 - 1
10-43598023-C-A c.571C>A p.L191M Missense 3/20 - 1
10-43598024-T-C c.572T>C p.L191P Missense 3/20 - 1
10-43598023-C-T c.571C>T p.L191= Synonymous 3/20 - 1
10-43598025-G-A c.573G>A p.L191= Synonymous 3/20 - 1
10-43598025-G-C c.573G>C p.L191= Synonymous 3/20 - 1
10-43598025-G-T c.573G>T p.L191= Synonymous 3/20 - 1
10-43598026-C-T c.574C>T p.P192S Missense 3/20 - 1
10-43598027-C-G c.575C>G p.P192R Missense 3/20 - 1
10-43598029-G-A c.577G>A p.V193M Missense 3/20 - 1
10-43598029-GTG-ATC c.577_579delinsATC p.V193I Missense 3/20 - 2
10-43598032-C-G c.580C>G p.Q194E Missense 3/20 - 1
10-43598033-A-G c.581A>G p.Q194R Missense 3/20 - 1
10-43598034-G-A c.582G>A p.Q194= Synonymous 3/20 - 2
10-43598034-G-C c.582G>C p.Q194H Missense 3/20 - 1
10-43598035-T-C c.583T>C p.F195L Missense 3/20 - 4
10-43598037-C-A c.585C>A p.F195L Missense 3/20 - 2
10-43598037-C-G c.585C>G p.F195L Missense 3/20 - 2
10-43598038-T-C c.586T>C p.L196= Synonymous 3/20 - 1
10-43598040-G-A c.588G>A p.L196= Synonymous 3/20 - 1
10-43598039-T-C c.587T>C p.L196S Missense 3/20 - 1
10-43598040-G-C c.588G>C p.L196F Missense 3/20 - 2
10-43598040-G-T c.588G>T p.L196F Missense 3/20 - 1
10-43598041-T-A c.589T>A p.C197S Missense 3/20 - 1
10-43598041-T-G c.589T>G p.C197G Missense 3/20 - 1
10-43598042-G-C c.590G>C p.C197S Missense 3/20 - 1
10-43598042-G-A c.590G>A p.C197Y Missense 3/20 - 6
10-43598042-GC-TA c.590_591delinsTA p.C197L Missense 3/20 - 1
10-43598044-C-A c.592C>A p.P198T Missense 3/20 - 3
10-43598045-C-A c.593C>A p.P198H Missense 3/20 - 1
10-43598045-C-G c.593C>G p.P198R Missense 3/20 - 1
10-43598049-C-T c.597C>T p.N199= Synonymous 3/20 - 1
10-43598050-A-T c.598A>T p.I200F Missense 3/20 - 1
10-43598050-CA-C c.598del p.I200Sfs*24 Frameshift 3/20 - 1
10-43598053-AG-CT c.601_602inv p.S201L Missense 3/20 - 1
10-43598053-AGC-TGA c.601_603delinsTGA p.S201* Nonsense 3/20 - 1
10-43598054-G-A c.602G>A p.S201N Missense 3/20 - 4
10-43598055-C-G c.603C>G p.S201R Missense 3/20 - 1
10-43598055-C-T c.603C>T p.S201= Synonymous 3/20 - 2
10-43598056-G-A c.604G>A p.V202M Missense 3/20 - 14
10-43598057-T-C c.605T>C p.V202A Missense 3/20 - 4
10-43598058-G-A c.606G>A p.V202= Synonymous 3/20 - 1
10-43598059-G-A c.607G>A p.A203T Missense 3/20 - 5
10-43598060-C-A c.608C>A p.A203D Missense 3/20 - 1
10-43598060-C-T c.608C>T p.A203V Missense 3/20 - 1
10-43598063-A-G c.611A>G p.Y204C Missense 3/20 - 5
10-43598064-C-A c.612C>A p.Y204* Nonsense 3/20 - 1
10-43598064-C-T c.612C>T p.Y204= Synonymous 3/20 - 1
10-43598065-A-G c.613A>G p.R205G Missense 3/20 - 6
10-43598065-AGG-CAT c.613_615delinsCAT p.R205H Missense 3/20 - 1
10-43598065-AG-TA c.613_614delinsTA p.R205* Nonsense 3/20 - 1
10-43598066-G-T c.614G>T p.R205M Missense 3/20 - 2
10-43598067-G-C c.615G>C p.R205S Missense 3/20 - 1
10-43598067-G-T c.615G>T p.R205S Missense 3/20 - 3
10-43598069-T-A c.617T>A p.L206H Missense 3/20 - 3
10-43598074-G-T c.622G>T p.E208* Nonsense 3/20 - 1
10-43598075-A-C c.623A>C p.E208A Missense 3/20 - 1
10-43598076-G-C c.624G>C p.E208D Missense 3/20 - 1
10-43598076-G-T c.624G>T p.E208D Missense 3/20 - 3
10-43598077-G-A c.625G>A p.G209S Missense 3/20 - 1
10-43598077-G-T c.625G>T p.G209C Missense 3/20 - 1
10-43598085-C-T c.625+8C>T - IntronicSNV - 3/19 1
10-43598087-G-A c.625+10G>A - IntronicSNV - 3/19 1
10-43598195-A-G c.625+118A>G - IntronicSNV - 3/19 3
10-43598384-C-T c.625+307C>T - IntronicSNV - 3/19 1
10-43600359-G-A c.626-41G>A - IntronicSNV - 3/19 1
10-43600402-G-A c.628G>A p.E210K Missense 4/20 - 3
10-43600402-TG-T c.628del p.E210Rfs*14 Frameshift 4/20 - 1
10-43600403-A-T c.629A>T p.E210V Missense 4/20 - 1
10-43600406-G-A c.632G>A p.G211D Missense 4/20 - 1
10-43600406-G-C c.632G>C p.G211A Missense 4/20 - 2
10-43600408-C-G c.634C>G p.L212V Missense 4/20 - 1
10-43600408-C-T c.634C>T p.L212= Synonymous 4/20 - 4
10-43600410-G-A c.636G>A p.L212= Synonymous 4/20 - 2
10-43600410-G-C c.636G>C p.L212= Synonymous 4/20 - 1
10-43600410-G-T c.636G>T p.L212= Synonymous 4/20 - 1
10-43600411-C-T c.637C>T p.P213S Missense 4/20 - 1
10-43600413-C-A c.639C>A p.P213= Synonymous 4/20 - 1
10-43600413-C-G c.639C>G p.P213= Synonymous 4/20 - 1
10-43600413-C-T c.639C>T p.P213= Synonymous 4/20 - 1
10-43600414-T-C c.640T>C p.F214L Missense 4/20 - 2
10-43600416-C-A c.642C>A p.F214L Missense 4/20 - 1
10-43600416-C-G c.642C>G p.F214L Missense 4/20 - 1
10-43600417-CG-AC c.643_644delinsAC p.R215T Missense 4/20 - 1
10-43600417-CGC-AAG c.643_645delinsAAG p.R215K Missense 4/20 - 1
10-43600417-CGC-TGG c.643_645delinsTGG p.R215W Missense 4/20 - 3
10-43600417-C-T c.643C>T p.R215C Missense 4/20 - 4
10-43600416-CCG-C c.644_645del p.R215Lfs*138 Frameshift 4/20 - 1
10-43600418-G-A c.644G>A p.R215H Missense 4/20 - 3
10-43600418-GC-AA c.644_645delinsAA p.R215Q Missense 4/20 - 1
10-43600418-G-T c.644G>T p.R215L Missense 4/20 - 2
10-43600420-T-A c.646T>A p.C216S Missense 4/20 - 2
10-43600421-G-C c.647G>C p.C216S Missense 4/20 - 2
10-43600424-C-T c.650C>T p.A217V Missense 4/20 - 3
10-43600425-C-A c.651C>A p.A217= Synonymous 4/20 - 1
10-43600425-C-G c.651C>G p.A217= Synonymous 4/20 - 1
10-43600425-C-T c.651C>T p.A217= Synonymous 4/20 - 1
10-43600427-C-G c.653C>G p.P218R Missense 4/20 - 1
10-43600428-G-A c.654G>A p.P218= Synonymous 4/20 - 3
10-43600428-G-C c.654G>C p.P218= Synonymous 4/20 - 1
10-43600429-G-A c.655G>A p.D219N Missense 4/20 - 1
10-43600429-GAC-TAA c.655_657delinsTAA p.D219* Nonsense 4/20 - 1
10-43600429-G-C c.655G>C p.D219H Missense 4/20 - 1
10-43600433-G-A c.659G>A p.S220N Missense 4/20 - 2
10-43600435-CT-AA c.661_662delinsAA p.L221K Missense 4/20 - 1
10-43600436-T-A c.662T>A p.L221Q Missense 4/20 - 1
10-43600438-G-A c.664G>A p.E222K Missense 4/20 - 2
10-43600438-G-C c.664G>C p.E222Q Missense 4/20 - 1
10-43600438-G-T c.664G>T p.E222* Nonsense 4/20 - 1
10-43600439-A-T c.665A>T p.E222V Missense 4/20 - 1
10-43600440-G-T c.666G>T p.E222D Missense 4/20 - 1
10-43600441-G-A c.667G>A p.V223M Missense 4/20 - 2
10-43600441-G-C c.667G>C p.V223L Missense 4/20 - 1
10-43600442-TG-AC c.668_669delinsAC p.V223D Missense 4/20 - 1
10-43600445-G-A c.671G>A p.S224N Missense 4/20 - 1
10-43600445-G-T c.671G>T p.S224I Missense 4/20 - 1
10-43600447-A-C c.673A>C p.T225P Missense 4/20 - 1
10-43600448-C-G c.674C>G p.T225R Missense 4/20 - 1
10-43600448-C-T c.674C>T p.T225M Missense 4/20 - 1
10-43600449-G-A c.675G>A p.T225= Synonymous 4/20 - 3
10-43600449-G-C c.675G>C p.T225= Synonymous 4/20 - 1
10-43600449-G-T c.675G>T p.T225= Synonymous 4/20 - 1
10-43600450-C-G c.676C>G p.R226G Missense 4/20 - 1
10-43600450-CGC-TGA c.676_678delinsTGA p.R226* Nonsense 4/20 - 1
10-43600450-CGC-TGG c.676_678delinsTGG p.R226W Missense 4/20 - 1
10-43600450-CG-GC c.676_677delinsGC p.R226A Missense 4/20 - 1
10-43600450-C-T c.676C>T p.R226C Missense 4/20 - 2
10-43600451-G-A c.677G>A p.R226H Missense 4/20 - 2
10-43600451-G-T c.677G>T p.R226L Missense 4/20 - 1
10-43600452-C-T c.678C>T p.R226= Synonymous 4/20 - 2
10-43600455-G-A c.681G>A p.W227* Nonsense 4/20 - 1
10-43600455-G-C c.681G>C p.W227C Missense 4/20 - 1
10-43600456-G-A c.682G>A p.A228T Missense 4/20 - 1
10-43600457-C-T c.683C>T p.A228V Missense 4/20 - 1
10-43600459-C-T c.685C>T p.L229= Synonymous 4/20 - 1
10-43600460-T-A c.686T>A p.L229Q Missense 4/20 - 1
10-43600460-T-C c.686T>C p.L229P Missense 4/20 - 1
10-43600461-G-A c.687G>A p.L229= Synonymous 4/20 - 1
10-43600460-TGGACC-T c.688_692del p.D230Rfs*122 Frameshift 4/20 - 1
10-43600462-G-A c.688G>A p.D230N Missense 4/20 - 2
10-43600462-G-T c.688G>T p.D230Y Missense 4/20 - 2
10-43600465-C-T c.691C>T p.R231C Missense 4/20 - 7
10-43600466-G-A c.692G>A p.R231H Missense 4/20 - 10
10-43600468-G-A c.694G>A p.E232K Missense 4/20 - 2
10-43600468-G-C c.694G>C p.E232Q Missense 4/20 - 2
10-43600469-A-G c.695A>G p.E232G Missense 4/20 - 1
10-43600471-C-A c.697C>A p.Q233K Missense 4/20 - 1
10-43600471-C-T c.697C>T p.Q233* Nonsense 4/20 - 1
10-43600472-A-G c.698A>G p.Q233R Missense 4/20 - 1
10-43600473-G-A c.699G>A p.Q233= Synonymous 4/20 - 1
10-43600474-C-G c.700C>G p.R234G Missense 4/20 - 1
10-43600474-C-T c.700C>T p.R234W Missense 4/20 - 4
10-43600475-G-C c.701G>C p.R234P Missense 4/20 - 1
10-43600475-GG-AT c.701_702delinsAT p.R234H Missense 4/20 - 3
10-43600475-G-T c.701G>T p.R234L Missense 4/20 - 2
10-43600477-G-A c.703G>A p.E235K Missense 4/20 - 5
10-43600477-G-C c.703G>C p.E235Q Missense 4/20 - 5
10-43600476-GGA-G c.705_706del p.K236Vfs*117 Frameshift 4/20 - 1
10-43600479-G-A c.705G>A p.E235= Synonymous 4/20 - 1
10-43600485-C-T c.711C>T p.Y237= Synonymous 4/20 - 1
10-43600486-G-A c.712G>A p.E238K Missense 4/20 - 4
10-43600486-G-T c.712G>T p.E238* Nonsense 4/20 - 4
10-43600487-A-T c.713A>T p.E238V Missense 4/20 - 1
10-43600489-C-T c.715C>T p.L239= Synonymous 4/20 - 1
10-43600491-G-A c.717G>A p.L239= Synonymous 4/20 - 1
10-43600491-G-C c.717G>C p.L239= Synonymous 4/20 - 1
10-43600491-G-T c.717G>T p.L239= Synonymous 4/20 - 1
10-43600492-G-A c.718G>A p.V240M Missense 4/20 - 1
10-43600492-G-C c.718G>C p.V240L Missense 4/20 - 1
10-43600493-T-C c.719T>C p.V240A Missense 4/20 - 1
10-43600494-G-A c.720G>A p.V240= Synonymous 4/20 - 2
10-43600494-G-C c.720G>C p.V240= Synonymous 4/20 - 2
10-43600494-G-T c.720G>T p.V240= Synonymous 4/20 - 3
10-43600495-G-A c.721G>A p.A241T Missense 4/20 - 1
10-43600496-CC-AG c.722_723delinsAG p.A241E Missense 4/20 - 1
10-43600496-C-T c.722C>T p.A241V Missense 4/20 - 1
10-43600495-GC-G c.723del p.V242Cfs*13 Frameshift 4/20 - 1
10-43600498-G-A c.724G>A p.V242M Missense 4/20 - 8
10-43600498-G-C c.724G>C p.V242L Missense 4/20 - 1
10-43600498-G-T c.724G>T p.V242L Missense 4/20 - 1
10-43600500-G-T c.726G>T p.V242= Synonymous 4/20 - 1
10-43600500-TG-T c.726del p.C243Afs*12 Frameshift 4/20 - 1
10-43600501-T-C c.727T>C p.C243R Missense 4/20 - 2
10-43600502-G-A c.728G>A p.C243Y Missense 4/20 - 1
10-43600503-C-A c.729C>A p.C243* Nonsense 4/20 - 2
10-43600504-A-C c.730A>C p.T244P Missense 4/20 - 1
10-43600504-A-G c.730A>G p.T244A Missense 4/20 - 3
10-43600505-CC-GG c.731_732inv p.T244R Missense 4/20 - 1
10-43600505-C-T c.731C>T p.T244I Missense 4/20 - 4
10-43600506-C-A c.732C>A p.T244= Synonymous 4/20 - 1
10-43600506-C-G c.732C>G p.T244= Synonymous 4/20 - 1
10-43600507-G-A c.733G>A p.V245M Missense 4/20 - 6
10-43600507-G-C c.733G>C p.V245L Missense 4/20 - 1
10-43600507-G-T c.733G>T p.V245L Missense 4/20 - 2
10-43600508-T-C c.734T>C p.V245A Missense 4/20 - 3
10-43600508-TGCACGCC-T c.736_742del p.H246Afs*7 Frameshift 4/20 - 1
10-43600510-C-G c.736C>G p.H246D Missense 4/20 - 3
10-43600512-C-T c.738C>T p.H246= Synonymous 4/20 - 1
10-43600513-G-A c.739G>A p.A247T Missense 4/20 - 2
10-43600513-G-T c.739G>T p.A247S Missense 4/20 - 1
10-43600514-C-T c.740C>T p.A247V Missense 4/20 - 3
10-43600515-C-CA c.741_742insA p.G248Rfs*106 Frameshift 4/20 - 1
10-43600516-G-A c.742G>A p.G248S Missense 4/20 - 6
10-43600517-G-A c.743G>A p.G248D Missense 4/20 - 3
10-43600517-G-C c.743G>C p.G248A Missense 4/20 - 1
10-43600517-G-T c.743G>T p.G248V Missense 4/20 - 2
10-43600519-G-A c.745G>A p.A249T Missense 4/20 - 1
10-43600520-C-G c.746C>G p.A249G Missense 4/20 - 2
10-43600520-C-T c.746C>T p.A249V Missense 4/20 - 1
10-43600522-C-T c.748C>T p.R250C Missense 4/20 - 5
10-43600523-G-C c.749G>C p.R250P Missense 4/20 - 3
10-43600523-GC-AA c.749_750delinsAA p.R250Q Missense 4/20 - 1
10-43600516-GGC-G c.750_751del p.E251Gfs*102 Frameshift 4/20 - 1
10-43600524-C-A c.750C>A p.R250= Synonymous 4/20 - 1
10-43600525-G-A c.751G>A p.E251K Missense 4/20 - 3
10-43600525-G-C c.751G>C p.E251Q Missense 4/20 - 3
10-43600526-A-C c.752A>C p.E251A Missense 4/20 - 1
10-43600526-A-G c.752A>G p.E251G Missense 4/20 - 1
10-43600526-A-T c.752A>T p.E251V Missense 4/20 - 1
10-43600527-G-C c.753G>C p.E251D Missense 4/20 - 2
10-43600527-GG-AA c.753_754delinsAA p.E252K Missense 4/20 - 1
10-43600528-G-A c.754G>A p.E252K Missense 4/20 - 3
10-43600528-G-C c.754G>C p.E252Q Missense 4/20 - 1
10-43600528-G-T c.754G>T p.E252* Nonsense 4/20 - 4
10-43600529-GAGGT-G c.755_758del p.E252Gfs*2 Frameshift 4/20 - 1
10-43600529-AGGTG-A c.757_760del p.V253* Frameshift 4/20 - 1
10-43600532-T-A c.758T>A p.V253E Missense 4/20 - 1
10-43600532-T-G c.758T>G p.V253G Missense 4/20 - 1
10-43600536-G-A c.762G>A p.V254= Synonymous 4/20 - 1
10-43600536-G-C c.762G>C p.V254= Synonymous 4/20 - 1
10-43600536-G-T c.762G>T p.V254= Synonymous 4/20 - 1
10-43600539-G-A c.765G>A p.M255I Missense 4/20 - 3
10-43600539-G-C c.765G>C p.M255I Missense 4/20 - 3
10-43600539-G-T c.765G>T p.M255I Missense 4/20 - 6
10-43600540-G-A c.766G>A p.V256M Missense 4/20 - 1
10-43600540-G-T c.766G>T p.V256L Missense 4/20 - 1
10-43600543-C-A c.769C>A p.P257T Missense 4/20 - 1
10-43600543-C-T c.769C>T p.P257S Missense 4/20 - 2
10-43600544-C-G c.770C>G p.P257R Missense 4/20 - 1
10-43600544-C-T c.770C>T p.P257L Missense 4/20 - 2
10-43600545-C-A c.771C>A p.P257= Synonymous 4/20 - 1
10-43600545-CCTTCCCGGTG-C c.771_780del p.F258Pfs*51 Frameshift 4/20 - 1
10-43600545-C-G c.771C>G p.P257= Synonymous 4/20 - 1
10-43600545-C-T c.771C>T p.P257= Synonymous 4/20 - 2
10-43600547-T-C c.773T>C p.F258S Missense 4/20 - 1
10-43600549-C-T c.775C>T p.P259S Missense 4/20 - 2
10-43600550-C-A c.776C>A p.P259Q Missense 4/20 - 2
10-43600550-C-G c.776C>G p.P259R Missense 4/20 - 1
10-43600550-C-T c.776C>T p.P259L Missense 4/20 - 3
10-43600552-G-C c.778G>C p.V260L Missense 4/20 - 1
10-43600555-A-G c.781A>G p.T261A Missense 4/20 - 1
10-43600556-C-T c.782C>T p.T261I Missense 4/20 - 1
10-43600557-C-A c.783C>A p.T261= Synonymous 4/20 - 1
10-43600558-G-A c.784G>A p.V262M Missense 4/20 - 3
10-43600559-T-A c.785T>A p.V262E Missense 4/20 - 1
10-43600559-T-C c.785T>C p.V262A Missense 4/20 - 14
10-43600559-T-G c.785T>G p.V262G Missense 4/20 - 1
10-43600561-T-A c.787T>A p.Y263N Missense 4/20 - 1
10-43600561-T-C c.787T>C p.Y263H Missense 4/20 - 1
10-43600562-A-G c.788A>G p.Y263C Missense 4/20 - 1
10-43600563-C-G c.789C>G p.Y263* Nonsense 4/20 - 4
10-43600563-C-T c.789C>T p.Y263= Synonymous 4/20 - 1
10-43600564-G-A c.790G>A p.D264N Missense 4/20 - 3
10-43600564-G-T c.790G>T p.D264Y Missense 4/20 - 1
10-43600565-A-G c.791A>G p.D264G Missense 4/20 - 1
10-43600566-C-T c.792C>T p.D264= Synonymous 4/20 - 2
10-43600567-G-T c.793G>T p.E265* Nonsense 4/20 - 2
10-43600569-G-A c.795G>A p.E265= Synonymous 4/20 - 1
10-43600569-G-C c.795G>C p.E265D Missense 4/20 - 1
10-43600570-G-A c.796G>A p.D266N Missense 4/20 - 1
10-43600570-G-T c.796G>T p.D266Y Missense 4/20 - 1
10-43600571-A-G c.797A>G p.D266G Missense 4/20 - 1
10-43600572-C-A c.798C>A p.D266E Missense 4/20 - 1
10-43600572-C-G c.798C>G p.D266E Missense 4/20 - 1
10-43600574-GA-G c.800del p.D267Afs*45 Frameshift 4/20 - 1
10-43600576-T-G c.802T>G p.S268A Missense 4/20 - 1
10-43600577-C-A c.803C>A p.S268* Nonsense 4/20 - 2
10-43600577-C-G c.803C>G p.S268W Missense 4/20 - 1
10-43600578-G-A c.804G>A p.S268= Synonymous 4/20 - 1
10-43600578-G-C c.804G>C p.S268= Synonymous 4/20 - 1
10-43600578-G-T c.804G>T p.S268= Synonymous 4/20 - 1
10-43600579-G-A c.805G>A p.A269T Missense 4/20 - 1
10-43600580-C-A c.806C>A p.A269E Missense 4/20 - 1
10-43600580-C-T c.806C>T p.A269V Missense 4/20 - 1
10-43600582-C-G c.808C>G p.P270A Missense 4/20 - 1
10-43600582-C-T c.808C>T p.P270S Missense 4/20 - 3
10-43600583-C-G c.809C>G p.P270R Missense 4/20 - 1
10-43600583-C-T c.809C>T p.P270L Missense 4/20 - 5
10-43600586-C-T c.812C>T p.T271I Missense 4/20 - 1
10-43600587-C-G c.813C>G p.T271= Synonymous 4/20 - 1
10-43600588-T-A c.814T>A p.F272I Missense 4/20 - 1
10-43600591-C-A c.817C>A p.P273T Missense 4/20 - 2
10-43600591-C-G c.817C>G p.P273A Missense 4/20 - 2
10-43600591-C-T c.817C>T p.P273S Missense 4/20 - 1
10-43600592-C-A c.818C>A p.P273H Missense 4/20 - 1
10-43600594-CG-C c.820del p.A274Rfs*38 Frameshift 4/20 - 1
10-43600594-G-A c.820G>A p.A274T Missense 4/20 - 1
10-43600595-C-A c.821C>A p.A274E Missense 4/20 - 1
10-43600595-C-T c.821C>T p.A274V Missense 4/20 - 3
10-43600598-G-A c.824G>A p.G275D Missense 4/20 - 1
10-43600598-G-C c.824G>C p.G275A Missense 4/20 - 1
10-43600600-G-A c.826G>A p.V276I Missense 4/20 - 3
10-43600600-G-T c.826G>T p.V276F Missense 4/20 - 2
10-43600601-T-C c.827T>C p.V276A Missense 4/20 - 1
10-43600601-T-G c.827T>G p.V276G Missense 4/20 - 3
10-43600602-C-T c.828C>T p.V276= Synonymous 4/20 - 2
10-43600603-CG-C c.829del p.D277Tfs*35 Frameshift 4/20 - 1
10-43600603-G-A c.829G>A p.D277N Missense 4/20 - 3
10-43600603-G-C c.829G>C p.D277H Missense 4/20 - 4
10-43600603-G-T c.829G>T p.D277Y Missense 4/20 - 1
10-43600604-A-G c.830A>G p.D277G Missense 4/20 - 3
10-43600605-C-A c.831C>A p.D277E Missense 4/20 - 1
10-43600606-A-C c.832A>C p.T278P Missense 4/20 - 5
10-43600606-A-G c.832A>G p.T278A Missense 4/20 - 7
10-43600607-C-A c.833C>A p.T278N Missense 4/20 - 45
10-43600607-C-T c.833C>T p.T278I Missense 4/20 - 2
10-43600608-C-A c.834C>A p.T278= Synonymous 4/20 - 1
10-43600608-C-G c.834C>G p.T278= Synonymous 4/20 - 1
10-43600608-C-T c.834C>T p.T278= Synonymous 4/20 - 2
10-43600609-G-A c.835G>A p.A279T Missense 4/20 - 5
10-43600609-G-T c.835G>T p.A279S Missense 4/20 - 1
10-43600612-AG-CT c.838_839inv p.S280L Missense 4/20 - 1
10-43600612-AG-TT c.838_839delinsTT p.S280F Missense 4/20 - 2
10-43600613-G-C c.839G>C p.S280T Missense 4/20 - 1
10-43600612-A-C c.838A>C p.S280R Missense 4/20 - 2
10-43600615-G-T c.841G>T p.A281S Missense 4/20 - 1
10-43600616-C-T c.842C>T p.A281V Missense 4/20 - 5
10-43600615-GC-G c.843del p.V282Wfs*30 Frameshift 4/20 - 1
10-43600617-C-A c.843C>A p.A281= Synonymous 4/20 - 2
10-43600617-C-G c.843C>G p.A281= Synonymous 4/20 - 2
10-43600617-C-T c.843C>T p.A281= Synonymous 4/20 - 4
10-43600618-G-A c.844G>A p.V282M Missense 4/20 - 1
10-43600618-G-C c.844G>C p.V282L Missense 4/20 - 1
10-43600618-G-T c.844G>T p.V282L Missense 4/20 - 2
10-43600618-G-GT c.845dup p.V283Gfs*71 Frameshift 4/20 - 1
10-43600619-T-A c.845T>A p.V282E Missense 4/20 - 1
10-43600621-G-A c.847G>A p.V283M Missense 4/20 - 1
10-43600624-G-A c.850G>A p.E284K Missense 4/20 - 2
10-43600624-G-C c.850G>C p.E284Q Missense 4/20 - 3
10-43600625-A-G c.851A>G p.E284G Missense 4/20 - 1
10-43600626-G-C c.852G>C p.E284D Missense 4/20 - 1
10-43600626-G-T c.852G>T p.E284D Missense 4/20 - 1
10-43600627-T-G c.853T>G p.F285V Missense 4/20 - 2
10-43600628-T-C c.854T>C p.F285S Missense 4/20 - 1
10-43600628-T-G c.854T>G p.F285C Missense 4/20 - 1
10-43600629-C-A c.855C>A p.F285L Missense 4/20 - 2
10-43600629-C-G c.855C>G p.F285L Missense 4/20 - 2
10-43600630-A-G c.856A>G p.K286E Missense 4/20 - 3
10-43600631-A-C c.857A>C p.K286T Missense 4/20 - 1
10-43600631-A-G c.857A>G p.K286R Missense 4/20 - 1
10-43600632-G-T c.858G>T p.K286N Missense 4/20 - 1
10-43600633-C-T c.859C>T p.R287W Missense 4/20 - 2
10-43600634-G-A c.860G>A p.R287Q Missense 4/20 - 5
10-43600634-G-T c.860G>T p.R287L Missense 4/20 - 2
10-43600635-G-A c.861G>A p.R287= Synonymous 4/20 - 2
10-43600635-G-C c.861G>C p.R287= Synonymous 4/20 - 1
10-43600635-G-T c.861G>T p.R287= Synonymous 4/20 - 1
10-43600637-A-ATCTG c.863_864insTCTG p.K288Nfs*67 Frameshift 4/20 - 1
10-43600638-G-C c.864G>C p.K288N Missense 4/20 - 4
10-43600638-G-GT c.864_865insT p.E289* Nonsense 4/20 - 1
10-43600638-G-T c.864G>T p.K288N Missense 4/20 - 5
10-43600637-A-AG c.865dup p.E289Gfs*65 SpliceDonorInsertion 4/20 - 1
10-43600639-G-A c.865G>A p.E289K Missense 4/20 - 1
10-43600639-G-T c.865G>T p.E289* Nonsense 4/20 - 2
10-43600640-A-G c.866A>G p.E289G Missense 4/20 - 1
10-43600641-G-C c.867G>C p.E289D Missense 4/20 - 2
10-43600641-G-T c.867G>T p.E289D Missense 4/20 - 2
10-43600642-G-T c.867+1G>T - IntronicSNV - 4/19 1
10-43600647-T-A c.867+6T>A - IntronicSNV - 4/19 1
10-43600655-C-G c.867+14C>G - IntronicSNV - 4/19 1
10-43600663-G-T c.867+22G>T - IntronicSNV - 4/19 1
10-43600689-A-G c.867+48A>G - IntronicSNV - 4/19 19
10-43601415-G-C c.868-409G>C - IntronicSNV - 4/19 1
10-43601415-G-T c.868-409G>T - IntronicSNV - 4/19 1
10-43601559-G-A c.868-265G>A - IntronicSNV - 4/19 1
10-43601559-G-T c.868-265G>T - IntronicSNV - 4/19 1
10-43601727-G-A c.868-97G>A - IntronicSNV - 4/19 1
10-43601749-T-C c.868-75T>C - IntronicSNV - 4/19 11
10-43601752-A-G c.868-72A>G - IntronicSNV - 4/19 1
10-43601761-G-C c.868-63G>C - IntronicSNV - 4/19 1
10-43601785-A-G c.868-39A>G - IntronicSNV - 4/19 1
10-43601805-C-T c.868-19C>T - IntronicSNV - 4/19 1
10-43601806-G-A c.868-18G>A - IntronicSNV - 4/19 1
10-43601806-G-T c.868-18G>T - IntronicSNV - 4/19 1
10-43601824-G-A c.868G>A p.D290N Missense 5/20 - 6
10-43601824-G-T c.868G>T p.D290Y Missense 5/20 - 1
10-43601828-C-G c.872C>G p.T291S Missense 5/20 - 1
10-43601828-C-T c.872C>T p.T291I Missense 5/20 - 1
10-43601829-C-T c.873C>T p.T291= Synonymous 5/20 - 1
10-43601830-G-A c.874G>A p.V292M Missense 5/20 - 39
10-43601830-G-T c.874G>T p.V292L Missense 5/20 - 1
10-43601832-G-A c.876G>A p.V292= Synonymous 5/20 - 2
10-43601836-G-A c.880G>A p.A294T Missense 5/20 - 1
10-43601836-G-T c.880G>T p.A294S Missense 5/20 - 1
10-43601837-C-T c.881C>T p.A294V Missense 5/20 - 4
10-43601838-C-A c.882C>A p.A294= Synonymous 5/20 - 2
10-43601838-C-G c.882C>G p.A294= Synonymous 5/20 - 1
10-43601838-C-T c.882C>T p.A294= Synonymous 5/20 - 1
10-43601839-A-G c.883A>G p.T295A Missense 5/20 - 1
10-43601840-C-T c.884C>T p.T295M Missense 5/20 - 4
10-43601843-T-A c.887T>A p.L296Q Missense 5/20 - 1
10-43601843-T-C c.887T>C p.L296P Missense 5/20 - 2
10-43601842-C-T c.886C>T p.L296= Synonymous 5/20 - 1
10-43601844-G-A c.888G>A p.L296= Synonymous 5/20 - 1
10-43601844-G-C c.888G>C p.L296= Synonymous 5/20 - 1
10-43601844-G-T c.888G>T p.L296= Synonymous 5/20 - 1
10-43601845-CGT-TGG c.889_891delinsTGG p.R297W Missense 5/20 - 1
10-43601845-C-T c.889C>T p.R297C Missense 5/20 - 5
10-43601846-G-A c.890G>A p.R297H Missense 5/20 - 4
10-43601846-G-C c.890G>C p.R297P Missense 5/20 - 1
10-43601846-G-T c.890G>T p.R297L Missense 5/20 - 7
10-43601848-G-A c.892G>A p.V298I Missense 5/20 - 1
10-43601848-G-T c.892G>T p.V298F Missense 5/20 - 2
10-43601849-T-C c.893T>C p.V298A Missense 5/20 - 1
10-43601853-C-T c.897C>T p.F299= Synonymous 5/20 - 3
10-43601854-G-A c.898G>A p.D300N Missense 5/20 - 10
10-43601854-G-C c.898G>C p.D300H Missense 5/20 - 1
10-43601856-T-A c.900T>A p.D300E Missense 5/20 - 4
10-43601856-T-G c.900T>G p.D300E Missense 5/20 - 4
10-43601857-G-A c.901G>A p.A301T Missense 5/20 - 2
10-43601858-C-A c.902C>A p.A301E Missense 5/20 - 3
10-43601860-G-C c.904G>C p.D302H Missense 5/20 - 3
10-43601863-G-A c.907G>A p.V303M Missense 5/20 - 2
10-43601867-T-G c.911T>G p.V304G Missense 5/20 - 1
10-43601869-C-T c.913C>T p.P305S Missense 5/20 - 1
10-43601870-C-T c.914C>T p.P305L Missense 5/20 - 3
10-43601872-G-A c.916G>A p.A306T Missense 5/20 - 1
10-43601873-C-T c.917C>T p.A306V Missense 5/20 - 2
10-43601876-C-A c.920C>A p.S307* Nonsense 5/20 - 1
10-43601876-C-G c.920C>G p.S307* Nonsense 5/20 - 1
10-43601876-C-T c.920C>T p.S307L Missense 5/20 - 1
10-43601878-G-T c.922G>T p.G308W Missense 5/20 - 1
10-43601879-G-A c.923G>A p.G308E Missense 5/20 - 2
10-43601879-G-C c.923G>C p.G308A Missense 5/20 - 1
10-43601879-G-T c.923G>T p.G308V Missense 5/20 - 2
10-43601881-G-A c.925G>A p.E309K Missense 5/20 - 2
10-43601883-G-C c.927G>C p.E309D Missense 5/20 - 1
10-43601883-G-T c.927G>T p.E309D Missense 5/20 - 1
10-43601884-C-T c.928C>T p.L310= Synonymous 5/20 - 1
10-43601884-CTG-TGT c.928_930delinsTGT p.L310C Missense 5/20 - 1
10-43601886-G-C c.930G>C p.L310= Synonymous 5/20 - 1
10-43601887-G-A c.931G>A p.V311M Missense 5/20 - 2
10-43601887-G-C c.931G>C p.V311L Missense 5/20 - 3
10-43601887-G-T c.931G>T p.V311L Missense 5/20 - 2
10-43601890-AG-CA c.934_935delinsCA p.R312Q Missense 5/20 - 1
10-43601891-G-A c.935G>A p.R312K Missense 5/20 - 2
10-43601892-G-A c.936G>A p.R312= Synonymous 5/20 - 1
10-43601893-C-A c.937C>A p.R313= Synonymous 5/20 - 2
10-43601893-C-G c.937C>G p.R313G Missense 5/20 - 1
10-43601893-CG-TA c.937_938delinsTA p.R313* Nonsense 5/20 - 1
10-43601893-C-T c.937C>T p.R313W Missense 5/20 - 12
10-43601895-G-A c.939G>A p.R313= Synonymous 5/20 - 2
10-43601895-G-C c.939G>C p.R313= Synonymous 5/20 - 2
10-43601895-G-T c.939G>T p.R313= Synonymous 5/20 - 2
10-43601894-G-A c.938G>A p.R313Q Missense 5/20 - 7
10-43601894-G-T c.938G>T p.R313L Missense 5/20 - 2
10-43601896-T-C c.940T>C p.Y314H Missense 5/20 - 3
10-43601897-A-G c.941A>G p.Y314C Missense 5/20 - 1
10-43601897-A-T c.941A>T p.Y314F Missense 5/20 - 1
10-43601899-AC-CT c.943_944delinsCT p.T315L Missense 5/20 - 2
10-43601899-AC-GT c.943_944inv p.T315V Missense 5/20 - 1
10-43601899-A-G c.943A>G p.T315A Missense 5/20 - 2
10-43601900-CA-AC c.944_945delinsAC p.T315N Missense 5/20 - 1
10-43601900-C-T c.944C>T p.T315I Missense 5/20 - 82
10-43601903-G-A c.947G>A p.S316N Missense 5/20 - 1
10-43601903-G-T c.947G>T p.S316I Missense 5/20 - 6
10-43601904-C-T c.948C>T p.S316= Synonymous 5/20 - 1
10-43601905-A-T c.949A>T p.T317S Missense 5/20 - 1
10-43601906-C-T c.950C>T p.T317M Missense 5/20 - 1
10-43601907-G-A c.951G>A p.T317= Synonymous 5/20 - 4
10-43601907-G-C c.951G>C p.T317= Synonymous 5/20 - 2
10-43601907-G-T c.951G>T p.T317= Synonymous 5/20 - 2
10-43601908-C-A c.952C>A p.L318M Missense 5/20 - 2
10-43601908-C-G c.952C>G p.L318V Missense 5/20 - 2
10-43601909-T-C c.953T>C p.L318P Missense 5/20 - 1
10-43601911-C-T c.955C>T p.L319F Missense 5/20 - 1
10-43601913-C-A c.957C>A p.L319= Synonymous 5/20 - 2
10-43601913-C-G c.957C>G p.L319= Synonymous 5/20 - 2
10-43601914-C-T c.958C>T p.P320S Missense 5/20 - 4
10-43601916-C-A c.960C>A p.P320= Synonymous 5/20 - 4
10-43601916-C-G c.960C>G p.P320= Synonymous 5/20 - 3
10-43601916-C-T c.960C>T p.P320= Synonymous 5/20 - 5
10-43601917-G-A c.961G>A p.G321R Missense 5/20 - 14
10-43601917-G-C c.961G>C p.G321R Missense 5/20 - 9
10-43601917-GG-AA c.961_962delinsAA p.G321K Missense 5/20 - 1
10-43601917-G-T c.961G>T p.G321W Missense 5/20 - 2
10-43601918-G-A c.962G>A p.G321E Missense 5/20 - 4
10-43601918-GG-AC c.962_963delinsAC p.G321D Missense 5/20 - 1
10-43601920-G-A c.964G>A p.D322N Missense 5/20 - 6
10-43601920-G-C c.964G>C p.D322H Missense 5/20 - 1
10-43601921-A-T c.965A>T p.D322V Missense 5/20 - 1
10-43601923-A-C c.967A>C p.T323P Missense 5/20 - 1
10-43601924-C-T c.968C>T p.T323I Missense 5/20 - 1
10-43601927-G-A c.971G>A p.W324* Nonsense 5/20 - 2
10-43601927-G-T c.971G>T p.W324L Missense 5/20 - 1
10-43601928-G-A c.972G>A p.W324* Nonsense 5/20 - 2
10-43601928-G-C c.972G>C p.W324C Missense 5/20 - 2
10-43601928-G-T c.972G>T p.W324C Missense 5/20 - 2
10-43601929-G-A c.973G>A p.A325T Missense 5/20 - 4
10-43601930-C-A c.974C>A p.A325D Missense 5/20 - 1
10-43601930-C-T c.974C>T p.A325V Missense 5/20 - 1
10-43601932-C-T c.976C>T p.Q326* Nonsense 5/20 - 2
10-43601933-A-G c.977A>G p.Q326R Missense 5/20 - 1
10-43601933-A-T c.977A>T p.Q326L Missense 5/20 - 1
10-43601934-G-C c.978G>C p.Q326H Missense 5/20 - 1
10-43601934-G-T c.978G>T p.Q326H Missense 5/20 - 1
10-43601936-A-C c.980A>C p.Q327P Missense 5/20 - 1
10-43601937-G-A c.981G>A p.Q327= Synonymous 5/20 - 1
10-43601937-G-C c.981G>C p.Q327H Missense 5/20 - 1
10-43601938-A-G c.982A>G p.T328A Missense 5/20 - 1
10-43601938-A-T c.982A>T p.T328S Missense 5/20 - 1
10-43601939-C-A c.983C>A p.T328N Missense 5/20 - 2
10-43601939-C-G c.983C>G p.T328S Missense 5/20 - 3
10-43601940-C-T c.984C>T p.T328= Synonymous 5/20 - 4
10-43601941-T-C c.985T>C p.F329L Missense 5/20 - 1
10-43601943-C-A c.987C>A p.F329L Missense 5/20 - 1
10-43601943-C-G c.987C>G p.F329L Missense 5/20 - 1
10-43601943-C-T c.987C>T p.F329= Synonymous 5/20 - 1
10-43601944-C-G c.988C>G p.R330G Missense 5/20 - 1
10-43601944-CG-TA c.988_989delinsTA p.R330* Nonsense 5/20 - 1
10-43601944-C-T c.988C>T p.R330W Missense 5/20 - 6
10-43601945-G-A c.989G>A p.R330Q Missense 5/20 - 19
10-43601945-GG-AT c.989_990delinsAT p.R330H Missense 5/20 - 1
10-43601946-G-T c.990G>T p.R330= Synonymous 5/20 - 1
10-43601947-G-A c.991G>A p.V331M Missense 5/20 - 1
10-43601947-G-T c.991G>T p.V331L Missense 5/20 - 1
10-43601948-T-A c.992T>A p.V331E Missense 5/20 - 1
10-43601948-T-G c.992T>G p.V331G Missense 5/20 - 1
10-43601949-G-A c.993G>A p.V331= Synonymous 5/20 - 1
10-43601950-G-A c.994G>A p.E332K Missense 5/20 - 1
10-43601951-A-C c.995A>C p.E332A Missense 5/20 - 1
10-43601953-CA-TG c.997_998inv p.H333C Missense 5/20 - 1
10-43601954-A-C c.998A>C p.H333P Missense 5/20 - 2
10-43601957-G-A c.1001G>A p.W334* Nonsense 5/20 - 1
10-43601957-G-T c.1001G>T p.W334L Missense 5/20 - 2
10-43601958-G-A c.1002G>A p.W334* Nonsense 5/20 - 1
10-43601959-C-A c.1003C>A p.P335T Missense 5/20 - 1
10-43601959-C-G c.1003C>G p.P335A Missense 5/20 - 1
10-43601961-C-T c.1005C>T p.P335= Synonymous 5/20 - 1
10-43601962-A-C c.1006A>C p.N336H Missense 5/20 - 1
10-43601963-A-C c.1007A>C p.N336T Missense 5/20 - 1
10-43601965-G-A c.1009G>A p.E337K Missense 5/20 - 8
10-43601966-A-T c.1010A>T p.E337V Missense 5/20 - 5
10-43601968-AC-GG c.1012_1013delinsGG p.T338G Missense 5/20 - 1
10-43601969-CC-TG c.1013_1014delinsTG p.T338M Missense 5/20 - 3
10-43601969-C-T c.1013C>T p.T338I Missense 5/20 - 11
10-43601970-C-A c.1014C>A p.T338= Synonymous 5/20 - 1
10-43601970-C-G c.1014C>G p.T338= Synonymous 5/20 - 2
10-43601970-C-T c.1014C>T p.T338= Synonymous 5/20 - 1
10-43601972-CG-GT c.1016_1017delinsGT p.S339C Missense 5/20 - 1
10-43601972-C-T c.1016C>T p.S339L Missense 5/20 - 5
10-43601974-G-A c.1018G>A p.V340I Missense 5/20 - 1
10-43601974-G-C c.1018G>C p.V340L Missense 5/20 - 1
10-43601974-G-T c.1018G>T p.V340F Missense 5/20 - 3
10-43601975-T-C c.1019T>C p.V340A Missense 5/20 - 1
10-43601979-G-T c.1023G>T p.Q341H Missense 5/20 - 1
10-43601980-G-T c.1024G>T p.A342S Missense 5/20 - 1
10-43601981-C-A c.1025C>A p.A342D Missense 5/20 - 2
10-43601981-C-G c.1025C>G p.A342G Missense 5/20 - 3
10-43601981-C-T c.1025C>T p.A342V Missense 5/20 - 6
10-43601984-A-G c.1028A>G p.N343S Missense 5/20 - 1
10-43601984-A-T c.1028A>T p.N343I Missense 5/20 - 1
10-43601985-C-T c.1029C>T p.N343= Synonymous 5/20 - 2
10-43601986-G-A c.1030G>A p.G344S Missense 5/20 - 5
10-43601987-G-A c.1031G>A p.G344D Missense 5/20 - 2
10-43601987-G-C c.1031G>C p.G344A Missense 5/20 - 1
10-43601987-G-T c.1031G>T p.G344V Missense 5/20 - 1
10-43601989-A-G c.1033A>G p.S345G Missense 5/20 - 1
10-43601989-AG-GA c.1033_1034delinsGA p.S345D Missense 5/20 - 1
10-43601989-AG-TT c.1033_1034delinsTT p.S345F Missense 5/20 - 2
10-43601990-G-A c.1034G>A p.S345N Missense 5/20 - 1
10-43601992-T-C c.1036T>C p.F346L Missense 5/20 - 1
10-43601994-C-A c.1038C>A p.F346L Missense 5/20 - 1
10-43601994-C-G c.1038C>G p.F346L Missense 5/20 - 1
10-43601993-T-A c.1037T>A p.F346Y Missense 5/20 - 1
10-43601994-C-T c.1038C>T p.F346= Synonymous 5/20 - 1
10-43601995-G-A c.1039G>A p.V347M Missense 5/20 - 4
10-43601995-G-C c.1039G>C p.V347L Missense 5/20 - 1
10-43601995-G-T c.1039G>T p.V347L Missense 5/20 - 2
10-43601996-T-A c.1040T>A p.V347E Missense 5/20 - 1
10-43601998-C-T c.1042C>T p.R348W Missense 5/20 - 3
10-43601999-G-A c.1043G>A p.R348Q Missense 5/20 - 5
10-43601999-GG-AT c.1043_1044delinsAT p.R348H Missense 5/20 - 1
10-43602000-G-A c.1044G>A p.R348= Synonymous 5/20 - 1
10-43602000-G-C c.1044G>C p.R348= Synonymous 5/20 - 1
10-43602001-G-A c.1045G>A p.A349T Missense 5/20 - 1
10-43602001-G-C c.1045G>C p.A349P Missense 5/20 - 2
10-43602001-G-T c.1045G>T p.A349S Missense 5/20 - 1
10-43602002-C-T c.1046C>T p.A349V Missense 5/20 - 11
10-43602003-G-A c.1047G>A p.A349= Synonymous 5/20 - 6
10-43602003-G-C c.1047G>C p.A349= Synonymous 5/20 - 1
10-43602003-G-T c.1047G>T p.A349= Synonymous 5/20 - 1
10-43602004-GA-G c.1048del p.T350Pfs*63 Frameshift 5/20 - 1
10-43602004-A-T c.1048A>T p.T350S Missense 5/20 - 1
10-43602005-C-A c.1049C>A p.T350N Missense 5/20 - 11
10-43602005-CC-AG c.1049_1050delinsAG p.T350K Missense 5/20 - 1
10-43602005-C-G c.1049C>G p.T350S Missense 5/20 - 1
10-43602005-C-T c.1049C>T p.T350I Missense 5/20 - 3
10-43602006-C-T c.1050C>T p.T350= Synonymous 5/20 - 1
10-43602007-G-A c.1051G>A p.V351I Missense 5/20 - 8
10-43602008-T-A c.1052T>A p.V351E Missense 5/20 - 4
10-43602009-A-C c.1053A>C p.V351= Synonymous 5/20 - 1
10-43602009-A-G c.1053A>G p.V351= Synonymous 5/20 - 1
10-43602009-A-T c.1053A>T p.V351= Synonymous 5/20 - 1
10-43602010-ACATG-A c.1054_1057del p.H352Tfs*60 Frameshift 5/20 - 1
10-43602010-C-T c.1054C>T p.H352Y Missense 5/20 - 2
10-43602011-A-C c.1055A>C p.H352P Missense 5/20 - 2
10-43602011-A-G c.1055A>G p.H352R Missense 5/20 - 1
10-43602013-G-A c.1057G>A p.D353N Missense 5/20 - 4
10-43602013-G-T c.1057G>T p.D353Y Missense 5/20 - 4
10-43602014-A-G c.1058A>G p.D353G Missense 5/20 - 1
10-43602015-C-A c.1059C>A p.D353E Missense 5/20 - 1
10-43602015-C-G c.1059C>G p.D353E Missense 5/20 - 1
10-43602016-T-G c.1060T>G p.Y354D Missense 5/20 - 2
10-43602017-A-AT c.1062dup p.R355* SpliceDonorInsertion 5/20 - 1
10-43602018-T-TC c.1062_1063insC p.R355Qfs*24 SpliceDonorInsertion 5/20 - 1
10-43602018-T-TG c.1062_1063insG p.R355Efs*24 SpliceDonorInsertion 5/20 - 1
10-43602018-T-TA c.1063dup p.R355Kfs*24 SpliceDonorInsertion - - 1
10-43602019-A-G c.1063A>G p.R355G Missense 5/20 - 1
10-43602019-A-T c.1063A>T p.R355W Missense 5/20 - 1
10-43602024-G-A c.1063+5G>A - IntronicSNV - 5/19 1
10-43602027-G-A c.1063+8G>A - IntronicSNV - 5/19 1
10-43602028-G-A c.1063+9G>A - IntronicSNV - 5/19 5
10-43602036-G-A c.1063+17G>A - IntronicSNV - 5/19 1
10-43602042-C-A c.1063+23C>A - IntronicSNV - 5/19 1
10-43602046-G-A c.1063+27G>A - IntronicSNV - 5/19 1
10-43602066-G-A c.1063+47G>A - IntronicSNV - 5/19 2
10-43602072-C-T c.1063+53C>T - IntronicSNV - 5/19 1
10-43603012-C-G c.1063+993C>G - IntronicSNV - 5/19 2
10-43603012-C-T c.1063+993C>T - IntronicSNV - 5/19 2
10-43603040-C-CACAA c.1063+1024_1063+1025insAACA - IntronicInsertion - 5/19 1
10-43603462-G-A c.1064-1017G>A - IntronicSNV - 5/19 1
10-43603919-G-A c.1064-560G>A - IntronicSNV - 5/19 1
10-43604148-A-C c.1064-331A>C - IntronicSNV - 5/19 1
10-43604390-A-T c.1064-89A>T - IntronicSNV - 5/19 8
10-43604463-G-A c.1064-16G>A - IntronicSNV - 5/19 1
10-43604463-G-T c.1064-16G>T - IntronicSNV - 5/19 1
10-43604465-G-T c.1064-14G>T - IntronicSNV - 5/19 1
10-43604479-G-A c.1064G>A p.R355K Missense 6/20 - 2
10-43604479-G-T c.1064G>T p.R355M Missense 6/20 - 1
10-43604477-AG-A c.1065del p.R355Sfs*58 Frameshift 6/20 - 1
10-43604481-C-T c.1066C>T p.L356= Synonymous 6/20 - 4
10-43604483-G-A c.1068G>A p.L356= Synonymous 6/20 - 2
10-43604483-G-C c.1068G>C p.L356= Synonymous 6/20 - 2
10-43604483-G-T c.1068G>T p.L356= Synonymous 6/20 - 5
10-43604484-G-A c.1069G>A p.V357I Missense 6/20 - 1
10-43604487-C-T c.1072C>T p.L358F Missense 6/20 - 1
10-43604488-T-A c.1073T>A p.L358H Missense 6/20 - 1
10-43604491-A-C c.1076A>C p.N359T Missense 6/20 - 1
10-43604492-C-A c.1077C>A p.N359K Missense 6/20 - 4
10-43604492-C-G c.1077C>G p.N359K Missense 6/20 - 4
10-43604493-C-T c.1078C>T p.R360W Missense 6/20 - 19
10-43604494-G-A c.1079G>A p.R360Q Missense 6/20 - 7
10-43604494-G-T c.1079G>T p.R360L Missense 6/20 - 1
10-43604495-G-A c.1080G>A p.R360= Synonymous 6/20 - 1
10-43604497-A-G c.1082A>G p.N361S Missense 6/20 - 2
10-43604497-A-T c.1082A>T p.N361I Missense 6/20 - 7
10-43604498-C-A c.1083C>A p.N361K Missense 6/20 - 3
10-43604498-C-G c.1083C>G p.N361K Missense 6/20 - 1
10-43604499-C-A c.1084C>A p.L362I Missense 6/20 - 2
10-43604499-C-T c.1084C>T p.L362F Missense 6/20 - 1
10-43604504-C-T c.1089C>T p.S363= Synonymous 6/20 - 4
10-43604509-C-T c.1094C>T p.S365L Missense 6/20 - 5
10-43604510-G-A c.1095G>A p.S365= Synonymous 6/20 - 2
10-43604510-G-T c.1095G>T p.S365= Synonymous 6/20 - 1
10-43604511-G-A c.1096G>A p.E366K Missense 6/20 - 7
10-43604511-G-C c.1096G>C p.E366Q Missense 6/20 - 5
10-43604511-G-T c.1096G>T p.E366* Nonsense 6/20 - 3
10-43604512-A-G c.1097A>G p.E366G Missense 6/20 - 1
10-43604513-G-C c.1098G>C p.E366D Missense 6/20 - 2
10-43604513-G-T c.1098G>T p.E366D Missense 6/20 - 2
10-43604514-A-C c.1099A>C p.N367H Missense 6/20 - 1
10-43604515-A-G c.1100A>G p.N367S Missense 6/20 - 2
10-43604515-A-T c.1100A>T p.N367I Missense 6/20 - 1
10-43604516-C-T c.1101C>T p.N367= Synonymous 6/20 - 1
10-43604517-C-T c.1102C>T p.R368C Missense 6/20 - 6
10-43604518-G-A c.1103G>A p.R368H Missense 6/20 - 3
10-43604518-GC-AA c.1103_1104delinsAA p.R368Q Missense 6/20 - 2
10-43604518-G-T c.1103G>T p.R368L Missense 6/20 - 1
10-43604520-A-G c.1105A>G p.T369A Missense 6/20 - 1
10-43604521-C-A c.1106C>A p.T369N Missense 6/20 - 1
10-43604521-CC-TG c.1106_1107delinsTG p.T369M Missense 6/20 - 1
10-43604523-A-G c.1108A>G p.M370V Missense 6/20 - 1
10-43604524-T-C c.1109T>C p.M370T Missense 6/20 - 1
10-43604525-G-A c.1110G>A p.M370I Missense 6/20 - 1
10-43604525-G-C c.1110G>C p.M370I Missense 6/20 - 1
10-43604525-G-T c.1110G>T p.M370I Missense 6/20 - 1
10-43604526-C-A c.1111C>A p.Q371K Missense 6/20 - 1
10-43604526-C-T c.1111C>T p.Q371* Nonsense 6/20 - 1
10-43604527-A-G c.1112A>G p.Q371R Missense 6/20 - 1
10-43604527-A-T c.1112A>T p.Q371L Missense 6/20 - 1
10-43604528-G-A c.1113G>A p.Q371= Synonymous 6/20 - 1
10-43604532-G-A c.1117G>A p.A373T Missense 6/20 - 2
10-43604532-G-T c.1117G>T p.A373S Missense 6/20 - 1
10-43604533-C-G c.1118C>G p.A373G Missense 6/20 - 1
10-43604533-CG-AC c.1118_1119delinsAC p.A373D Missense 6/20 - 1
10-43604533-C-T c.1118C>T p.A373V Missense 6/20 - 20
10-43604535-G-C c.1120G>C p.V374L Missense 6/20 - 1
10-43604535-G-T c.1120G>T p.V374L Missense 6/20 - 1
10-43604536-T-C c.1121T>C p.V374A Missense 6/20 - 2
10-43604536-T-G c.1121T>G p.V374G Missense 6/20 - 1
10-43604537-G-A c.1122G>A p.V374= Synonymous 6/20 - 2
10-43604537-G-C c.1122G>C p.V374= Synonymous 6/20 - 1
10-43604537-G-T c.1122G>T p.V374= Synonymous 6/20 - 1
10-43604539-T-A c.1124T>A p.L375Q Missense 6/20 - 6
10-43604542-T-C c.1127T>C p.V376A Missense 6/20 - 4
10-43604543-C-A c.1128C>A p.V376= Synonymous 6/20 - 1
10-43604543-C-G c.1128C>G p.V376= Synonymous 6/20 - 1
10-43604543-C-T c.1128C>T p.V376= Synonymous 6/20 - 1
10-43604544-A-C c.1129A>C p.N377H Missense 6/20 - 1
10-43604544-A-T c.1129A>T p.N377Y Missense 6/20 - 1
10-43604547-G-A c.1132G>A p.D378N Missense 6/20 - 1
10-43604547-GA-AC c.1132_1133delinsAC p.D378T Missense 6/20 - 1
10-43604547-G-T c.1132G>T p.D378Y Missense 6/20 - 1
10-43604548-A-G c.1133A>G p.D378G Missense 6/20 - 1
10-43604549-ACTCAGACTTCCAGGGCCCAGG-A c.1134_1154del p.D378_G385delinsE MultiAAMissense 6/20 - 1
10-43604553-G-A c.1138G>A p.D380N Missense 6/20 - 4
10-43604553-G-C c.1138G>C p.D380H Missense 6/20 - 2
10-43604553-G-T c.1138G>T p.D380Y Missense 6/20 - 1
10-43604555-C-A c.1140C>A p.D380E Missense 6/20 - 2
10-43604556-T-C c.1141T>C p.F381L Missense 6/20 - 1
10-43604557-T-G c.1142T>G p.F381C Missense 6/20 - 2
10-43604558-C-A c.1143C>A p.F381L Missense 6/20 - 1
10-43604562-G-A c.1147G>A p.G383S Missense 6/20 - 2
10-43604563-G-A c.1148G>A p.G383D Missense 6/20 - 1
10-43604563-G-C c.1148G>C p.G383A Missense 6/20 - 1
10-43604563-GC-AG c.1148_1149delinsAG p.G383E Missense 6/20 - 1
10-43604563-G-T c.1148G>T p.G383V Missense 6/20 - 1
10-43604564-C-A c.1149C>A p.G383= Synonymous 6/20 - 3
10-43604564-C-G c.1149C>G p.G383= Synonymous 6/20 - 1
10-43604564-C-T c.1149C>T p.G383= Synonymous 6/20 - 1
10-43604565-C-G c.1150C>G p.P384A Missense 6/20 - 2
10-43604565-C-T c.1150C>T p.P384S Missense 6/20 - 3
10-43604566-C-A c.1151C>A p.P384Q Missense 6/20 - 2
10-43604566-C-G c.1151C>G p.P384R Missense 6/20 - 2
10-43604566-C-T c.1151C>T p.P384L Missense 6/20 - 1
10-43604567-A-C c.1152A>C p.P384= Synonymous 6/20 - 1
10-43604567-A-G c.1152A>G p.P384= Synonymous 6/20 - 1
10-43604567-A-T c.1152A>T p.P384= Synonymous 6/20 - 1
10-43604568-G-A c.1153G>A p.G385R Missense 6/20 - 3
10-43604568-G-C c.1153G>C p.G385R Missense 6/20 - 1
10-43604569-G-A c.1154G>A p.G385E Missense 6/20 - 2
10-43604571-G-A c.1156G>A p.A386T Missense 6/20 - 6
10-43604572-C-A c.1157C>A p.A386E Missense 6/20 - 1
10-43604572-C-T c.1157C>T p.A386V Missense 6/20 - 9
10-43604573-G-A c.1158G>A p.A386= Synonymous 6/20 - 4
10-43604573-G-C c.1158G>C p.A386= Synonymous 6/20 - 2
10-43604573-G-T c.1158G>T p.A386= Synonymous 6/20 - 3
10-43604575-G-A c.1160G>A p.G387D Missense 6/20 - 4
10-43604575-GC-AG c.1160_1161delinsAG p.G387E Missense 6/20 - 1
10-43604575-G-T c.1160G>T p.G387V Missense 6/20 - 2
10-43604576-C-A c.1161C>A p.G387= Synonymous 6/20 - 2
10-43604576-C-G c.1161C>G p.G387= Synonymous 6/20 - 1
10-43604576-C-T c.1161C>T p.G387= Synonymous 6/20 - 1
10-43604577-G-A c.1162G>A p.V388I Missense 6/20 - 2
10-43604577-G-T c.1162G>T p.V388F Missense 6/20 - 1
10-43604578-T-C c.1163T>C p.V388A Missense 6/20 - 2
10-43604579-C-A c.1164C>A p.V388= Synonymous 6/20 - 1
10-43604579-C-T c.1164C>T p.V388= Synonymous 6/20 - 1
10-43604580-C-T c.1165C>T p.L389F Missense 6/20 - 3
10-43604583-TT-GG c.1168_1169delinsGG p.L390G Missense 6/20 - 1
10-43604584-T-C c.1169T>C p.L390S Missense 6/20 - 1
10-43604585-G-T c.1170G>T p.L390F Missense 6/20 - 1
10-43604588-C-T c.1173C>T p.L391= Synonymous 6/20 - 5
10-43604589-C-T c.1174C>T p.H392Y Missense 6/20 - 1
10-43604591-C-T c.1176C>T p.H392= Synonymous 6/20 - 1
10-43604592-T-C c.1177T>C p.F393L Missense 6/20 - 1
10-43604594-C-A c.1179C>A p.F393L Missense 6/20 - 3
10-43604594-C-G c.1179C>G p.F393L Missense 6/20 - 1
10-43604593-T-A c.1178T>A p.F393Y Missense 6/20 - 1
10-43604593-T-C c.1178T>C p.F393S Missense 6/20 - 1
10-43604594-C-T c.1179C>T p.F393= Synonymous 6/20 - 1
10-43604595-A-C c.1180A>C p.N394H Missense 6/20 - 3
10-43604596-A-G c.1181A>G p.N394S Missense 6/20 - 1
10-43604596-A-T c.1181A>T p.N394I Missense 6/20 - 1
10-43604597-C-A c.1182C>A p.N394K Missense 6/20 - 5
10-43604597-C-G c.1182C>G p.N394K Missense 6/20 - 5
10-43604597-C-T c.1182C>T p.N394= Synonymous 6/20 - 2
10-43604598-G-A c.1183G>A p.V395M Missense 6/20 - 4
10-43604598-G-T c.1183G>T p.V395L Missense 6/20 - 1
10-43604600-G-A c.1185G>A p.V395= Synonymous 6/20 - 1
10-43604600-G-C c.1185G>C p.V395= Synonymous 6/20 - 1
10-43604600-G-T c.1185G>T p.V395= Synonymous 6/20 - 1
10-43604601-T-C c.1186T>C p.S396P Missense 6/20 - 1
10-43604601-TC-GA c.1186_1187inv p.S396E Missense 6/20 - 1
10-43604602-C-A c.1187C>A p.S396* Nonsense 6/20 - 2
10-43604602-C-T c.1187C>T p.S396L Missense 6/20 - 4
10-43604603-G-A c.1188G>A p.S396= Synonymous 6/20 - 1
10-43604604-G-A c.1189G>A p.V397M Missense 6/20 - 6
10-43604604-G-C c.1189G>C p.V397L Missense 6/20 - 1
10-43604604-G-T c.1189G>T p.V397L Missense 6/20 - 1
10-43604608-T-C c.1193T>C p.L398P Missense 6/20 - 1
10-43604610-C-A c.1195C>A p.P399T Missense 6/20 - 1
10-43604610-C-T c.1195C>T p.P399S Missense 6/20 - 2
10-43604611-C-G c.1196C>G p.P399R Missense 6/20 - 2
10-43604611-C-T c.1196C>T p.P399L Missense 6/20 - 7
10-43604612-G-A c.1197G>A p.P399= Synonymous 6/20 - 3
10-43604612-G-T c.1197G>T p.P399= Synonymous 6/20 - 1
10-43604613-G-A c.1198G>A p.V400I Missense 6/20 - 1
10-43604614-T-G c.1199T>G p.V400G Missense 6/20 - 1
10-43604616-A-G c.1201A>G p.S401G Missense 6/20 - 2
10-43604616-A-T c.1201A>T p.S401C Missense 6/20 - 6
10-43604617-G-A c.1202G>A p.S401N Missense 6/20 - 2
10-43604619-C-T c.1204C>T p.L402= Synonymous 6/20 - 1
10-43604619-CTG-TGT c.1204_1206delinsTGT p.L402C Missense 6/20 - 1
10-43604620-T-C c.1205T>C p.L402P Missense 6/20 - 1
10-43604622-C-T c.1207C>T p.H403Y Missense 6/20 - 2
10-43604625-CTG-TTT c.1210_1212delinsTTT p.L404F Missense 6/20 - 1
10-43604626-T-C c.1211T>C p.L404P Missense 6/20 - 1
10-43604626-T-TG c.1212dup p.P405Afs*65 Frameshift 6/20 - 1
10-43604628-C-T c.1213C>T p.P405S Missense 6/20 - 1
10-43604629-C-A c.1214C>A p.P405H Missense 6/20 - 1
10-43604629-C-T c.1214C>T p.P405L Missense 6/20 - 1
10-43604631-A-G c.1216A>G p.S406G Missense 6/20 - 4
10-43604632-G-A c.1217G>A p.S406N Missense 6/20 - 2
10-43604631-A-C c.1216A>C p.S406R Missense 6/20 - 2
10-43604633-T-A c.1218T>A p.S406R Missense 6/20 - 1
10-43604633-T-G c.1218T>G p.S406R Missense 6/20 - 1
10-43604635-C-T c.1220C>T p.T407I Missense 6/20 - 1
10-43604637-T-A c.1222T>A p.Y408N Missense 6/20 - 1
10-43604637-T-C c.1222T>C p.Y408H Missense 6/20 - 1
10-43604640-T-A c.1225T>A p.S409T Missense 6/20 - 2
10-43604641-C-A c.1226C>A p.S409Y Missense 6/20 - 3
10-43604641-C-G c.1226C>G p.S409C Missense 6/20 - 1
10-43604642-C-T c.1227C>T p.S409= Synonymous 6/20 - 1
10-43604643-C-A c.1228C>A p.L410I Missense 6/20 - 2
10-43604643-C-G c.1228C>G p.L410V Missense 6/20 - 3
10-43604643-C-T c.1228C>T p.L410F Missense 6/20 - 1
10-43604645-C-T c.1230C>T p.L410= Synonymous 6/20 - 4
10-43604646-T-A c.1231T>A p.S411T Missense 6/20 - 1
10-43604646-T-C c.1231T>C p.S411P Missense 6/20 - 1
10-43604647-C-T c.1232C>T p.S411F Missense 6/20 - 2
10-43604648-C-G c.1233C>G p.S411= Synonymous 6/20 - 2
10-43604648-C-T c.1233C>T p.S411= Synonymous 6/20 - 1
10-43604649-G-A c.1234G>A p.V412M Missense 6/20 - 8
10-43604650-T-A c.1235T>A p.V412E Missense 6/20 - 1
10-43604650-T-C c.1235T>C p.V412A Missense 6/20 - 2
10-43604651-G-A c.1236G>A p.V412= Synonymous 6/20 - 1
10-43604652-A-T c.1237A>T p.S413C Missense 6/20 - 1
10-43604653-AG-A c.1238del p.S413Tfs*40 Frameshift 6/20 - 1
10-43604653-G-A c.1238G>A p.S413N Missense 6/20 - 1
10-43604653-G-C c.1238G>C p.S413T Missense 6/20 - 1
10-43604652-A-C c.1237A>C p.S413R Missense 6/20 - 2
10-43604654-C-A c.1239C>A p.S413R Missense 6/20 - 3
10-43604654-C-G c.1239C>G p.S413R Missense 6/20 - 2
10-43604655-AG-CA c.1240_1241delinsCA p.R414Q Missense 6/20 - 1
10-43604655-AGG-CAT c.1240_1242delinsCAT p.R414H Missense 6/20 - 1
10-43604656-G-A c.1241G>A p.R414K Missense 6/20 - 1
10-43604657-G-C c.1242G>C p.R414S Missense 6/20 - 1
10-43604657-G-T c.1242G>T p.R414S Missense 6/20 - 1
10-43604658-A-G c.1243A>G p.R415G Missense 6/20 - 1
10-43604658-AG-CA c.1243_1244delinsCA p.R415Q Missense 6/20 - 1
10-43604658-AGG-TGT c.1243_1245delinsTGT p.R415C Missense 6/20 - 1
10-43604659-G-T c.1244G>T p.R415M Missense 6/20 - 1
10-43604662-C-T c.1247C>T p.A416V Missense 6/20 - 1
10-43604664-C-T c.1249C>T p.R417C Missense 6/20 - 12
10-43604665-G-A c.1250G>A p.R417H Missense 6/20 - 3
10-43604665-GC-AA c.1250_1251delinsAA p.R417Q Missense 6/20 - 4
10-43604665-G-T c.1250G>T p.R417L Missense 6/20 - 1
10-43604666-C-A c.1251C>A p.R417= Synonymous 6/20 - 1
10-43604666-C-G c.1251C>G p.R417= Synonymous 6/20 - 1
10-43604666-C-T c.1251C>T p.R417= Synonymous 6/20 - 2
10-43604667-C-T c.1252C>T p.R418* Nonsense 6/20 - 5
10-43604668-G-A c.1253G>A p.R418Q Missense 6/20 - 11
10-43604668-G-C c.1253G>C p.R418P Missense 6/20 - 1
10-43604668-G-T c.1253G>T p.R418L Missense 6/20 - 2
10-43604671-T-C c.1256T>C p.F419S Missense 6/20 - 1
10-43604671-T-G c.1256T>G p.F419C Missense 6/20 - 1
10-43604673-G-T c.1258G>T p.A420S Missense 6/20 - 1
10-43604674-C-T c.1259C>T p.A420V Missense 6/20 - 1
10-43604676-C-A c.1261C>A p.Q421K Missense 6/20 - 1
10-43604676-C-G c.1261C>G p.Q421E Missense 6/20 - 1
10-43604676-C-T c.1261C>T p.Q421* Nonsense 6/20 - 2
10-43604677-A-C c.1262A>C p.Q421P Missense 6/20 - 1
10-43604677-A-G c.1262A>G p.Q421R Missense 6/20 - 1
10-43604678-G-A c.1263G>A p.Q421= Synonymous 6/20 - 1
10-43604683-G-A c.1263+5G>A - IntronicSNV - 6/19 1
10-43604692-T-C c.1263+14T>C - IntronicSNV - 6/19 1
10-43604950-A-G c.1263+272A>G - IntronicSNV - 6/19 4
10-43605115-C-T c.1263+437C>T - IntronicSNV - 6/19 1
10-43605247-TAAA-T c.1263+569_1263+571del - IntronicDeletion - 6/19 1
10-43605392-G-A c.1263+714G>A - IntronicSNV - 6/19 3
10-43605392-G-C c.1263+714G>C - IntronicSNV - 6/19 2
10-43605540-G-A c.1263+862G>A - IntronicSNV - 6/19 1
10-43605554-C-G c.1263+876C>G - IntronicSNV - 6/19 1
10-43605586-G-A c.1263+908G>A - IntronicSNV - 6/19 2
10-43605625-G-A c.1263+947G>A - IntronicSNV - 6/19 1
10-43605860-T-A c.1264-795T>A - IntronicSNV - 6/19 3
10-43605860-T-G c.1264-795T>G - IntronicSNV - 6/19 3
10-43605896-G-A c.1264-759G>A - IntronicSNV - 6/19 2
10-43605902-A-G c.1264-753A>G - IntronicSNV - 6/19 2
10-43606102-G-A c.1264-553G>A - IntronicSNV - 6/19 1
10-43606298-G-A c.1264-357G>A - IntronicSNV - 6/19 1
10-43606459-G-A c.1264-196G>A - IntronicSNV - 6/19 1
10-43606648-C-G c.1264-7C>G - IntronicSNV - 6/19 1
10-43606648-C-T c.1264-7C>T - IntronicSNV - 6/19 1
10-43606650-C-G c.1264-5C>G - IntronicSNV - 6/19 5
10-43606650-C-T c.1264-5C>T - IntronicSNV - 6/19 5
10-43606655-A-G c.1264A>G p.I422V Missense 7/20 - 1
10-43606656-AT-A c.1265del p.I422Tfs*31 Frameshift 7/20 - 1
10-43606658-G-A c.1267G>A p.G423R Missense 7/20 - 7
10-43606658-G-C c.1267G>C p.G423R Missense 7/20 - 5
10-43606663-A-C c.1272A>C p.K424N Missense 7/20 - 1
10-43606663-A-T c.1272A>T p.K424N Missense 7/20 - 1
10-43606664-G-C c.1273G>C p.V425L Missense 7/20 - 1
10-43606665-T-C c.1274T>C p.V425A Missense 7/20 - 1
10-43606666-C-A c.1275C>A p.V425= Synonymous 7/20 - 1
10-43606671-TG-T c.1282del p.E428Kfs*25 Frameshift 7/20 - 1
10-43606673-G-A c.1282G>A p.E428K Missense 7/20 - 1
10-43606674-A-G c.1283A>G p.E428G Missense 7/20 - 3
10-43606678-C-G c.1287C>G p.N429K Missense 7/20 - 1
10-43606679-TG-AC c.1288_1289delinsAC p.C430T Missense 7/20 - 1
10-43606682-C-A c.1291C>A p.Q431K Missense 7/20 - 1
10-43606682-C-T c.1291C>T p.Q431* Nonsense 7/20 - 2
10-43606683-A-G c.1292A>G p.Q431R Missense 7/20 - 2
10-43606684-G-C c.1293G>C p.Q431H Missense 7/20 - 1
10-43606684-G-T c.1293G>T p.Q431H Missense 7/20 - 1
10-43606685-G-A c.1294G>A p.A432T Missense 7/20 - 1
10-43606686-C-A c.1295C>A p.A432E Missense 7/20 - 4
10-43606686-CA-AG c.1295_1296delinsAG p.A432E Missense 7/20 - 1
10-43606686-C-T c.1295C>T p.A432V Missense 7/20 - 12
10-43606687-A-C c.1296A>C p.A432= Synonymous 7/20 - 1
10-43606687-A-G c.1296A>G p.A432= Synonymous 7/20 - 64
10-43606687-A-T c.1296A>T p.A432= Synonymous 7/20 - 40
10-43606688-T-C c.1297T>C p.F433L Missense 7/20 - 1
10-43606690-C-A c.1299C>A p.F433L Missense 7/20 - 2
10-43606690-C-G c.1299C>G p.F433L Missense 7/20 - 4
10-43606691-AG-GC c.1300_1301delinsGC p.S434A Missense 7/20 - 1
10-43606694-G-C c.1303G>C p.G435R Missense 7/20 - 1
10-43606695-G-A c.1304G>A p.G435D Missense 7/20 - 6
10-43606695-G-T c.1304G>T p.G435V Missense 7/20 - 1
10-43606697-A-G c.1306A>G p.I436V Missense 7/20 - 3
10-43606698-T-C c.1307T>C p.I436T Missense 7/20 - 1
10-43606701-A-G c.1310A>G p.N437S Missense 7/20 - 2
10-43606701-A-T c.1310A>T p.N437I Missense 7/20 - 3
10-43606702-C-G c.1311C>G p.N437K Missense 7/20 - 1
10-43606702-C-T c.1311C>T p.N437= Synonymous 7/20 - 3
10-43606703-G-A c.1312G>A p.V438I Missense 7/20 - 6
10-43606706-C-T c.1315C>T p.Q439* Nonsense 7/20 - 3
10-43606707-A-G c.1316A>G p.Q439R Missense 7/20 - 1
10-43606709-T-A c.1318T>A p.Y440N Missense 7/20 - 1
10-43606710-A-G c.1319A>G p.Y440C Missense 7/20 - 1
10-43606710-A-T c.1319A>T p.Y440F Missense 7/20 - 1
10-43606711-C-A c.1320C>A p.Y440* Nonsense 7/20 - 1
10-43606711-C-G c.1320C>G p.Y440* Nonsense 7/20 - 1
10-43606712-A-C c.1321A>C p.K441Q Missense 7/20 - 1
10-43606712-A-G c.1321A>G p.K441E Missense 7/20 - 1
10-43606713-A-T c.1322A>T p.K441M Missense 7/20 - 1
10-43606714-G-A c.1323G>A p.K441= Synonymous 7/20 - 1
10-43606716-T-C c.1325T>C p.L442P Missense 7/20 - 1
10-43606715-C-T c.1324C>T p.L442= Synonymous 7/20 - 1
10-43606717-G-A c.1326G>A p.L442= Synonymous 7/20 - 1
10-43606717-G-C c.1326G>C p.L442= Synonymous 7/20 - 1
10-43606717-G-T c.1326G>T p.L442= Synonymous 7/20 - 1
10-43606718-C-T c.1327C>T p.H443Y Missense 7/20 - 2
10-43606723-C-A c.1332C>A p.S444= Synonymous 7/20 - 3
10-43606723-C-G c.1332C>G p.S444= Synonymous 7/20 - 2
10-43606723-C-T c.1332C>T p.S444= Synonymous 7/20 - 2
10-43606725-C-T c.1334C>T p.S445F Missense 7/20 - 1
10-43606727-G-C c.1336G>C p.G446R Missense 7/20 - 7
10-43606727-GG-AA c.1336_1337delinsAA p.G446N Missense 7/20 - 1
10-43606731-C-A c.1340C>A p.A447D Missense 7/20 - 1
10-43606731-C-G c.1340C>G p.A447G Missense 7/20 - 1
10-43606731-C-T c.1340C>T p.A447V Missense 7/20 - 1
10-43606732-C-T c.1341C>T p.A447= Synonymous 7/20 - 3
10-43606734-A-G c.1343A>G p.N448S Missense 7/20 - 2
10-43606735-C-A c.1344C>A p.N448K Missense 7/20 - 1
10-43606735-C-G c.1344C>G p.N448K Missense 7/20 - 1
10-43606736-T-G c.1345T>G p.C449G Missense 7/20 - 1
10-43606737-G-A c.1346G>A p.C449Y Missense 7/20 - 1
10-43606740-G-A c.1349G>A p.S450N Missense 7/20 - 3
10-43606742-A-T c.1351A>T p.T451S Missense 7/20 - 1
10-43606743-C-T c.1352C>T p.T451M Missense 7/20 - 12
10-43606744-G-A c.1353G>A p.T451= Synonymous 7/20 - 4
10-43606744-G-T c.1353G>T p.T451= Synonymous 7/20 - 1
10-43606745-C-A c.1354C>A p.L452I Missense 7/20 - 1
10-43606746-T-C c.1355T>C p.L452P Missense 7/20 - 1
10-43606746-T-G c.1355T>G p.L452R Missense 7/20 - 1
10-43606748-G-A c.1357G>A p.G453R Missense 7/20 - 4
10-43606748-G-C c.1357G>C p.G453R Missense 7/20 - 3
10-43606748-G-T c.1357G>T p.G453W Missense 7/20 - 1
10-43606749-G-A c.1358G>A p.G453E Missense 7/20 - 2
10-43606749-G-T c.1358G>T p.G453V Missense 7/20 - 1
10-43606750-G-A c.1359G>A p.G453= Synonymous 7/20 - 2
10-43606750-G-C c.1359G>C p.G453= Synonymous 7/20 - 2
10-43606750-G-T c.1359G>T p.G453= Synonymous 7/20 - 1
10-43606752-T-A c.1361T>A p.V454E Missense 7/20 - 1
10-43606752-T-C c.1361T>C p.V454A Missense 7/20 - 1
10-43606754-G-A c.1363G>A p.V455I Missense 7/20 - 2
10-43606754-G-T c.1363G>T p.V455F Missense 7/20 - 2
10-43606755-T-C c.1364T>C p.V455A Missense 7/20 - 1
10-43606757-A-G c.1366A>G p.T456A Missense 7/20 - 1
10-43606760-T-G c.1369T>G p.S457A Missense 7/20 - 1
10-43606761-C-A c.1370C>A p.S457* Nonsense 7/20 - 1
10-43606761-C-T c.1370C>T p.S457L Missense 7/20 - 2
10-43606763-G-A c.1372G>A p.A458T Missense 7/20 - 1
10-43606764-C-A c.1373C>A p.A458D Missense 7/20 - 1
10-43606766-G-A c.1375G>A p.E459K Missense 7/20 - 10
10-43606766-G-T c.1375G>T p.E459* Nonsense 7/20 - 1
10-43606768-G-C c.1377G>C p.E459D Missense 7/20 - 1
10-43606768-G-T c.1377G>T p.E459D Missense 7/20 - 2
10-43606769-G-A c.1378G>A p.D460N Missense 7/20 - 3
10-43606769-G-C c.1378G>C p.D460H Missense 7/20 - 1
10-43606769-G-T c.1378G>T p.D460Y Missense 7/20 - 2
10-43606770-A-T c.1379A>T p.D460V Missense 7/20 - 6
10-43606773-C-T c.1382C>T p.T461I Missense 7/20 - 3
10-43606776-CG-GT c.1385_1386delinsGT p.S462C Missense 7/20 - 1
10-43606776-C-T c.1385C>T p.S462L Missense 7/20 - 9
10-43606777-G-A c.1386G>A p.S462= Synonymous 7/20 - 1
10-43606777-G-T c.1386G>T p.S462= Synonymous 7/20 - 2
10-43606778-G-A c.1387G>A p.G463R Missense 7/20 - 7
10-43606778-G-C c.1387G>C p.G463R Missense 7/20 - 2
10-43606779-G-C c.1388G>C p.G463A Missense 7/20 - 1
10-43606781-A-G c.1390A>G p.I464V Missense 7/20 - 1
10-43606781-AT-GC c.1390_1391delinsGC p.I464A Missense 7/20 - 1
10-43606783-C-T c.1392C>T p.I464= Synonymous 7/20 - 4
10-43606784-C-A c.1393C>A p.L465M Missense 7/20 - 1
10-43606784-C-CT c.1394dup p.F466Vfs*4 Frameshift 7/20 - 1
10-43606784-C-T c.1393C>T p.L465= Synonymous 7/20 - 2
10-43606786-G-A c.1395G>A p.L465= Synonymous 7/20 - 1
10-43606786-G-C c.1395G>C p.L465= Synonymous 7/20 - 1
10-43606786-G-T c.1395G>T p.L465= Synonymous 7/20 - 1
10-43606788-T-C c.1397T>C p.F466S Missense 7/20 - 1
10-43606789-T-C c.1398T>C p.F466= Synonymous 7/20 - 1
10-43606790-G-C c.1399G>C p.V467L Missense 7/20 - 2
10-43606790-G-T c.1399G>T p.V467L Missense 7/20 - 1
10-43606791-T-A c.1400T>A p.V467E Missense 7/20 - 1
10-43606791-T-C c.1400T>C p.V467A Missense 7/20 - 2
10-43606793-A-C c.1402A>C p.N468H Missense 7/20 - 1
10-43606793-GAA-G c.1402_1403del p.N468* Frameshift 7/20 - 1
10-43606794-A-G c.1403A>G p.N468S Missense 7/20 - 2
10-43606795-T-A c.1404T>A p.N468K Missense 7/20 - 1
10-43606795-T-C c.1404T>C p.N468= Synonymous 7/20 - 3
10-43606795-T-G c.1404T>G p.N468K Missense 7/20 - 1
10-43606796-G-A c.1405G>A p.D469N Missense 7/20 - 1
10-43606796-G-C c.1405G>C p.D469H Missense 7/20 - 1
10-43606799-A-G c.1408A>G p.T470A Missense 7/20 - 1
10-43606803-A-C c.1412A>C p.K471T Missense 7/20 - 1
10-43606804-G-T c.1413G>T p.K471N Missense 7/20 - 2
10-43606806-C-T c.1415C>T p.A472V Missense 7/20 - 5
10-43606807-C-T c.1416C>T p.A472= Synonymous 7/20 - 1
10-43606808-C-T c.1417C>T p.L473= Synonymous 7/20 - 3
10-43606809-T-A c.1418T>A p.L473Q Missense 7/20 - 1
10-43606810-G-A c.1419G>A p.L473= Synonymous 7/20 - 1
10-43606810-G-C c.1419G>C p.L473= Synonymous 7/20 - 1
10-43606810-G-T c.1419G>T p.L473= Synonymous 7/20 - 2
10-43606811-C-A c.1420C>A p.R474= Synonymous 7/20 - 2
10-43606811-C-T c.1420C>T p.R474W Missense 7/20 - 6
10-43606812-G-A c.1421G>A p.R474Q Missense 7/20 - 1
10-43606814-C-T c.1423C>T p.R475W Missense 7/20 - 8
10-43606815-G-A c.1424G>A p.R475Q Missense 7/20 - 10
10-43606815-G-T c.1424G>T p.R475L Missense 7/20 - 1
10-43606817-C-A c.1426C>A p.P476T Missense 7/20 - 1
10-43606817-C-G c.1426C>G p.P476A Missense 7/20 - 1
10-43606817-C-T c.1426C>T p.P476S Missense 7/20 - 2
10-43606819-C-A c.1428C>A p.P476= Synonymous 7/20 - 1
10-43606819-C-G c.1428C>G p.P476= Synonymous 7/20 - 1
10-43606819-C-T c.1428C>T p.P476= Synonymous 7/20 - 1
10-43606820-A-G c.1429A>G p.K477E Missense 7/20 - 1
10-43606820-A-T c.1429A>T p.K477* Nonsense 7/20 - 1
10-43606821-A-C c.1430A>C p.K477T Missense 7/20 - 1
10-43606822-G-GCCCCCC c.1431_1432insCCCCCC p.K477_C478insPP InFrameInsertion 7/20 - 1
10-43606824-G-A c.1433G>A p.C478Y Missense 7/20 - 1
10-43606824-G-T c.1433G>T p.C478F Missense 7/20 - 3
10-43606825-T-A c.1434T>A p.C478* Nonsense 7/20 - 1
10-43606825-T-C c.1434T>C p.C478= Synonymous 7/20 - 1
10-43606826-G-A c.1435G>A p.A479T Missense 7/20 - 1
10-43606826-G-C c.1435G>C p.A479P Missense 7/20 - 2
10-43606826-GCC-CAA c.1435_1437delinsCAA p.A479Q Missense 7/20 - 1
10-43606826-GC-TG c.1435_1436delinsTG p.A479C Missense 7/20 - 1
10-43606826-G-T c.1435G>T p.A479S Missense 7/20 - 5
10-43606828-C-A c.1437C>A p.A479= Synonymous 7/20 - 1
10-43606828-C-T c.1437C>T p.A479= Synonymous 7/20 - 1
10-43606829-CGAA-C c.1438_1440del p.E480del InFrameDeletion 7/20 - 1
10-43606829-G-A c.1438G>A p.E480K Missense 7/20 - 15
10-43606829-G-T c.1438G>T p.E480* Nonsense 7/20 - 1
10-43606830-A-G c.1439A>G p.E480G Missense 7/20 - 1
10-43606831-A-G c.1440A>G p.E480= Synonymous 7/20 - 2
10-43606832-C-G c.1441C>G p.L481V Missense 7/20 - 6
10-43606833-T-C c.1442T>C p.L481P Missense 7/20 - 3
10-43606833-T-G c.1442T>G p.L481R Missense 7/20 - 8
10-43606835-C-T c.1444C>T p.H482Y Missense 7/20 - 9
10-43606836-A-G c.1445A>G p.H482R Missense 7/20 - 1
10-43606836-A-T c.1445A>T p.H482L Missense 7/20 - 1
10-43606838-T-G c.1447T>G p.Y483D Missense 7/20 - 3
10-43606839-A-T c.1448A>T p.Y483F Missense 7/20 - 1
10-43606840-C-A c.1449C>A p.Y483* Nonsense 7/20 - 1
10-43606841-A-C c.1450A>C p.M484L Missense 7/20 - 2
10-43606841-A-G c.1450A>G p.M484V Missense 7/20 - 1
10-43606841-A-T c.1450A>T p.M484L Missense 7/20 - 3
10-43606842-T-C c.1451T>C p.M484T Missense 7/20 - 6
10-43606843-G-A c.1452G>A p.M484I Missense 7/20 - 2
10-43606843-G-C c.1452G>C p.M484I Missense 7/20 - 2
10-43606843-G-T c.1452G>T p.M484I Missense 7/20 - 2
10-43606844-G-C c.1453G>C p.V485L Missense 7/20 - 1
10-43606844-G-T c.1453G>T p.V485L Missense 7/20 - 1
10-43606845-T-C c.1454T>C p.V485A Missense 7/20 - 1
10-43606847-G-A c.1456G>A p.V486M Missense 7/20 - 1
10-43606847-G-C c.1456G>C p.V486L Missense 7/20 - 1
10-43606847-G-T c.1456G>T p.V486L Missense 7/20 - 2
10-43606850-G-A c.1459G>A p.A487T Missense 7/20 - 4
10-43606850-G-T c.1459G>T p.A487S Missense 7/20 - 2
10-43606851-C-T c.1460C>T p.A487V Missense 7/20 - 2
10-43606853-A-G c.1462A>G p.T488A Missense 7/20 - 1
10-43606853-A-T c.1462A>T p.T488S Missense 7/20 - 3
10-43606854-C-A c.1463C>A p.T488N Missense 7/20 - 1
10-43606854-C-G c.1463C>G p.T488S Missense 7/20 - 1
10-43606854-C-T c.1463C>T p.T488I Missense 7/20 - 2
10-43606855-C-T c.1464C>T p.T488= Synonymous 7/20 - 1
10-43606856-G-A c.1465G>A p.D489N Missense 7/20 - 33
10-43606857-A-G c.1466A>G p.D489G Missense 7/20 - 1
10-43606857-A-T c.1466A>T p.D489V Missense 7/20 - 1
10-43606859-C-A c.1468C>A p.Q490K Missense 7/20 - 1
10-43606859-C-T c.1468C>T p.Q490* Nonsense 7/20 - 2
10-43606860-A-G c.1469A>G p.Q490R Missense 7/20 - 1
10-43606860-CA-C c.1469del p.Q490Rfs*13 Frameshift 7/20 - 1
10-43606861-G-C c.1470G>C p.Q490H Missense 7/20 - 1
10-43606861-G-T c.1470G>T p.Q490H Missense 7/20 - 1
10-43606862-C-T c.1471C>T p.Q491* Nonsense 7/20 - 3
10-43606863-CA-C c.1472del p.Q491Rfs*12 Frameshift 7/20 - 1
10-43606865-A-G c.1474A>G p.T492A Missense 7/20 - 1
10-43606866-C-A c.1475C>A p.T492N Missense 7/20 - 2
10-43606866-C-T c.1475C>T p.T492I Missense 7/20 - 1
10-43606867-C-A c.1476C>A p.T492= Synonymous 7/20 - 1
10-43606867-C-G c.1476C>G p.T492= Synonymous 7/20 - 3
10-43606867-C-T c.1476C>T p.T492= Synonymous 7/20 - 3
10-43606868-TC-AT c.1477_1478delinsAT p.S493I Missense 7/20 - 1
10-43606869-C-T c.1478C>T p.S493F Missense 7/20 - 3
10-43606870-T-A c.1479T>A p.S493= Synonymous 7/20 - 1
10-43606870-T-C c.1479T>C p.S493= Synonymous 7/20 - 1
10-43606870-T-G c.1479T>G p.S493= Synonymous 7/20 - 2
10-43606871-AGG-CAT c.1480_1482delinsCAT p.R494H Missense 7/20 - 1
10-43606871-AG-TA c.1480_1481delinsTA p.R494* Nonsense 7/20 - 3
10-43606872-G-A c.1481G>A p.R494K Missense 7/20 - 2
10-43606872-G-T c.1481G>T p.R494M Missense 7/20 - 8
10-43606874-C-T c.1483C>T p.Q495* Nonsense 7/20 - 2
10-43606874-GC-G c.1483del p.Q495Rfs*8 Frameshift 7/20 - 1
10-43606875-A-G c.1484A>G p.Q495R Missense 7/20 - 1
10-43606876-G-C c.1485G>C p.Q495H Missense 7/20 - 1
10-43606876-G-T c.1485G>T p.Q495H Missense 7/20 - 1
10-43606877-G-T c.1486G>T p.A496S Missense 7/20 - 2
10-43606878-C-A c.1487C>A p.A496D Missense 7/20 - 1
10-43606878-C-G c.1487C>G p.A496G Missense 7/20 - 4
10-43606878-C-T c.1487C>T p.A496V Missense 7/20 - 1
10-43606879-C-T c.1488C>T p.A496= Synonymous 7/20 - 1
10-43606880-C-T c.1489C>T p.Q497* Nonsense 7/20 - 1
10-43606883-G-A c.1492G>A p.A498T Missense 7/20 - 1
10-43606883-G-T c.1492G>T p.A498S Missense 7/20 - 1
10-43606884-C-T c.1493C>T p.A498V Missense 7/20 - 3
10-43606885-C-CA c.1494_1495insA p.Q499Tfs*31 Frameshift 7/20 - 1
10-43606886-C-T c.1495C>T p.Q499* Nonsense 7/20 - 1
10-43606887-A-T c.1496A>T p.Q499L Missense 7/20 - 1
10-43606888-G-A c.1497G>A p.Q499= Synonymous 7/20 - 1
10-43606889-C-A c.1498C>A p.L500M Missense 7/20 - 1
10-43606890-T-C c.1499T>C p.L500P Missense 7/20 - 1
10-43606892-C-T c.1501C>T p.L501F Missense 7/20 - 1
10-43606895-G-A c.1504G>A p.V502I Missense 7/20 - 2
10-43606895-G-T c.1504G>T p.V502L Missense 7/20 - 1
10-43606899-C-G c.1508C>G p.T503R Missense 7/20 - 1
10-43606899-C-T c.1508C>T p.T503I Missense 7/20 - 1
10-43606900-A-C c.1509A>C p.T503= Synonymous 7/20 - 1
10-43606900-A-G c.1509A>G p.T503= Synonymous 7/20 - 1
10-43606901-G-C c.1510G>C p.V504L Missense 7/20 - 1
10-43606901-G-T c.1510G>T p.V504L Missense 7/20 - 1
10-43606902-T-C c.1511T>C p.V504A Missense 7/20 - 1
10-43606903-G-A c.1512G>A p.V504= Synonymous 7/20 - 2
10-43606903-G-T c.1512G>T p.V504= Synonymous 7/20 - 1
10-43606902-TGGAGGG-T c.1513_1518del p.E505_G506del InFrameDeletion 7/20 - 2
10-43606904-G-T c.1513G>T p.E505* Nonsense 7/20 - 1
10-43606904-G-GA c.1514dup p.S507Vfs*23 Frameshift 7/20 - 1
10-43606905-A-C c.1514A>C p.E505A Missense 7/20 - 1
10-43606905-A-T c.1514A>T p.E505V Missense 7/20 - 1
10-43606906-G-C c.1515G>C p.E505D Missense 7/20 - 1
10-43606907-G-T c.1516G>T p.G506W Missense 7/20 - 1
10-43606908-G-A c.1517G>A p.G506E Missense 7/20 - 2
10-43606909-G-T c.1518G>T p.G506= Synonymous 7/20 - 1
10-43606910-GTCAT-G c.1519_1522del p.S507Mfs*130 SpliceDonorDeletion 7/20 - 1
10-43606910-T-C c.1519T>C p.S507P Missense 7/20 - 1
10-43606910-TC-AG c.1519_1520delinsAG p.S507R Missense 7/20 - 1
10-43606912-A-C c.1521A>C p.S507= Synonymous 7/20 - 2
10-43606912-A-G c.1521A>G p.S507= Synonymous 7/20 - 4
10-43606912-A-T c.1521A>T p.S507= Synonymous 7/20 - 3
10-43606913-T-C c.1522T>C p.Y508H Missense 7/20 - 2
10-43606914-G-T c.1522+1G>T - IntronicSNV - 7/19 1
10-43606930-G-A c.1522+17G>A - IntronicSNV - 7/19 1
10-43606933-A-T c.1522+20A>T - IntronicSNV - 7/19 1
10-43606941-GTC-G c.1522+28_1522+29del - IntronicDeletion - 7/19 1
10-43606971-C-A c.1522+58C>A - IntronicSNV - 7/19 1
10-43607002-G-A c.1522+89G>A - IntronicSNV - 7/19 1
10-43607013-C-A c.1522+100C>A - IntronicSNV - 7/19 1
10-43607033-G-A c.1522+120G>A - IntronicSNV - 7/19 1
10-43607196-C-T c.1522+283C>T - IntronicSNV - 7/19 1
10-43607221-C-G c.1522+308C>G - IntronicSNV - 7/19 1
10-43607283-G-A c.1523-264G>A - IntronicSNV - 7/19 1
10-43607283-G-C c.1523-264G>C - IntronicSNV - 7/19 1
10-43607547-A-C c.1523A>C p.Y508S Missense 8/20 - 1
10-43607547-A-G c.1523A>G p.Y508C Missense 8/20 - 1
10-43607549-G-A c.1525G>A p.V509M Missense 8/20 - 1
10-43607549-G-C c.1525G>C p.V509L Missense 8/20 - 1
10-43607549-G-T c.1525G>T p.V509L Missense 8/20 - 1
10-43607548-TGTGGCCGAG-T c.1526_1534del p.V509_E511del InFrameDeletion 8/20 - 1
10-43607552-G-A c.1528G>A p.A510T Missense 8/20 - 1
10-43607552-G-T c.1528G>T p.A510S Missense 8/20 - 3
10-43607553-C-T c.1529C>T p.A510V Missense 8/20 - 8
10-43607554-C-A c.1530C>A p.A510= Synonymous 8/20 - 1
10-43607554-C-G c.1530C>G p.A510= Synonymous 8/20 - 1
10-43607554-C-T c.1530C>T p.A510= Synonymous 8/20 - 1
10-43607555-G-A c.1531G>A p.E511K Missense 8/20 - 28
10-43607557-G-C c.1533G>C p.E511D Missense 8/20 - 2
10-43607557-G-T c.1533G>T p.E511D Missense 8/20 - 3
10-43607558-G-A c.1534G>A p.E512K Missense 8/20 - 2
10-43607561-G-A c.1537G>A p.A513T Missense 8/20 - 2
10-43607562-C-A c.1538C>A p.A513E Missense 8/20 - 1
10-43607562-C-G c.1538C>G p.A513G Missense 8/20 - 7
10-43607562-C-T c.1538C>T p.A513V Missense 8/20 - 5
10-43607563-G-A c.1539G>A p.A513= Synonymous 8/20 - 1
10-43607564-G-T c.1540G>T p.G514C Missense 8/20 - 1
10-43607562-CG-C c.1541del p.G514Afs*124 Frameshift 8/20 - 1
10-43607565-G-A c.1541G>A p.G514D Missense 8/20 - 2
10-43607566-C-A c.1542C>A p.G514= Synonymous 8/20 - 1
10-43607567-T-A c.1543T>A p.C515S Missense 8/20 - 14
10-43607568-G-C c.1544G>C p.C515S Missense 8/20 - 14
10-43607568-G-T c.1544G>T p.C515F Missense 8/20 - 1
10-43607569-C-G c.1545C>G p.C515W Missense 8/20 - 2
10-43607570-C-T c.1546C>T p.P516S Missense 8/20 - 3
10-43607571-C-A c.1547C>A p.P516H Missense 8/20 - 1
10-43607571-C-G c.1547C>G p.P516R Missense 8/20 - 1
10-43607571-C-T c.1547C>T p.P516L Missense 8/20 - 1
10-43607573-C-T c.1549C>T p.L517= Synonymous 8/20 - 1
10-43607576-T-C c.1552T>C p.S518P Missense 8/20 - 2
10-43607576-T-G c.1552T>G p.S518A Missense 8/20 - 1
10-43607577-C-A c.1553C>A p.S518Y Missense 8/20 - 1
10-43607579-T-G c.1555T>G p.C519G Missense 8/20 - 2
10-43607581-T-G c.1557T>G p.C519W Missense 8/20 - 1
10-43607581-T-TG c.1558dup p.A520Gfs*10 Frameshift 8/20 - 1
10-43607582-G-A c.1558G>A p.A520T Missense 8/20 - 1
10-43607582-G-T c.1558G>T p.A520S Missense 8/20 - 1
10-43607583-C-A c.1559C>A p.A520E Missense 8/20 - 1
10-43607583-CA-AC c.1559_1560delinsAC p.A520D Missense 8/20 - 1
10-43607583-C-G c.1559C>G p.A520G Missense 8/20 - 1
10-43607583-C-T c.1559C>T p.A520V Missense 8/20 - 1
10-43607584-A-C c.1560A>C p.A520= Synonymous 8/20 - 1
10-43607584-A-G c.1560A>G p.A520= Synonymous 8/20 - 1
10-43607584-A-T c.1560A>T p.A520= Synonymous 8/20 - 1
10-43607585-G-C c.1561G>C p.V521L Missense 8/20 - 1
10-43607585-G-T c.1561G>T p.V521F Missense 8/20 - 1
10-43607589-G-A c.1565G>A p.S522N Missense 8/20 - 1
10-43607594-A-G c.1570A>G p.R524G Missense 8/20 - 2
10-43607595-G-A c.1571G>A p.R524K Missense 8/20 - 1
10-43607595-G-T c.1571G>T p.R524I Missense 8/20 - 1
10-43607597-C-G c.1573C>G p.R525G Missense 8/20 - 4
10-43607597-CGG-AGC c.1573_1575delinsAGC p.R525S Missense 8/20 - 1
10-43607597-CGG-TGT c.1573_1575delinsTGT p.R525C Missense 8/20 - 1
10-43607597-C-T c.1573C>T p.R525W Missense 8/20 - 11
10-43607598-G-A c.1574G>A p.R525Q Missense 8/20 - 5
10-43607598-G-C c.1574G>C p.R525P Missense 8/20 - 1
10-43607598-G-T c.1574G>T p.R525L Missense 8/20 - 1
10-43607597-CG-C c.1575del p.L526Wfs*112 Frameshift 8/20 - 1
10-43607599-G-A c.1575G>A p.R525= Synonymous 8/20 - 1
10-43607599-G-T c.1575G>T p.R525= Synonymous 8/20 - 1
10-43607600-C-A c.1576C>A p.L526M Missense 8/20 - 1
10-43607600-C-G c.1576C>G p.L526V Missense 8/20 - 1
10-43607600-CT-TC c.1576_1577delinsTC p.L526S Missense 8/20 - 1
10-43607601-T-C c.1577T>C p.L526P Missense 8/20 - 1
10-43607603-G-A c.1579G>A p.E527K Missense 8/20 - 2
10-43607603-G-C c.1579G>C p.E527Q Missense 8/20 - 1
10-43607604-A-G c.1580A>G p.E527G Missense 8/20 - 2
10-43607604-A-T c.1580A>T p.E527V Missense 8/20 - 1
10-43607606-GT-G c.1582del p.C528Vfs*110 Frameshift 8/20 - 1
10-43607606-T-A c.1582T>A p.C528S Missense 8/20 - 1
10-43607607-G-C c.1583G>C p.C528S Missense 8/20 - 1
10-43607607-G-A c.1583G>A p.C528Y Missense 8/20 - 2
10-43607609-G-T c.1585G>T p.E529* Nonsense 8/20 - 1
10-43607612-G-A c.1588G>A p.E530K Missense 8/20 - 3
10-43607612-G-T c.1588G>T p.E530* Nonsense 8/20 - 1
10-43607614-G-A c.1590G>A p.E530= Synonymous 8/20 - 1
10-43607614-G-C c.1590G>C p.E530D Missense 8/20 - 1
10-43607614-G-T c.1590G>T p.E530D Missense 8/20 - 1
10-43607615-T-C c.1591T>C p.C531R Missense 8/20 - 3
10-43607617-T-G c.1593T>G p.C531W Missense 8/20 - 1
10-43607619-G-A c.1595G>A p.G532D Missense 8/20 - 1
10-43607620-C-A c.1596C>A p.G532= Synonymous 8/20 - 2
10-43607620-C-CT c.1596_1597insT p.G533Wfs*10 Frameshift 8/20 - 1
10-43607620-C-G c.1596C>G p.G532= Synonymous 8/20 - 2
10-43607620-C-T c.1596C>T p.G532= Synonymous 8/20 - 2
10-43607621-G-A c.1597G>A p.G533S Missense 8/20 - 13
10-43607621-G-T c.1597G>T p.G533C Missense 8/20 - 45
10-43607622-G-A c.1598G>A p.G533D Missense 8/20 - 1
10-43607622-GC-AG c.1598_1599delinsAG p.G533E Missense 8/20 - 1
10-43607622-G-T c.1598G>T p.G533V Missense 8/20 - 2
10-43607624-CTG-ATC c.1600_1602delinsATC p.L534I Missense 8/20 - 2
10-43607625-T-A c.1601T>A p.L534Q Missense 8/20 - 1
10-43607626-G-GT c.1602_1603insT p.G535Wfs*8 Frameshift 8/20 - 1
10-43607627-G-C c.1603G>C p.G535R Missense 8/20 - 1
10-43607628-G-C c.1604G>C p.G535A Missense 8/20 - 1
10-43607628-G-T c.1604G>T p.G535V Missense 8/20 - 1
10-43607629-C-T c.1605C>T p.G535= Synonymous 8/20 - 2
10-43607632-C-A c.1608C>A p.S536= Synonymous 8/20 - 1
10-43607632-C-G c.1608C>G p.S536= Synonymous 8/20 - 1
10-43607632-C-T c.1608C>T p.S536= Synonymous 8/20 - 1
10-43607634-C-G c.1610C>G p.P537R Missense 8/20 - 1
10-43607635-A-C c.1611A>C p.P537= Synonymous 8/20 - 1
10-43607635-A-G c.1611A>G p.P537= Synonymous 8/20 - 1
10-43607637-C-T c.1613C>T p.T538I Missense 8/20 - 1
10-43607639-G-T c.1615G>T p.G539C Missense 8/20 - 1
10-43607642-A-G c.1618A>G p.R540G Missense 8/20 - 7
10-43607642-AG-CC c.1618_1619delinsCC p.R540P Missense 8/20 - 1
10-43607642-AGG-TGT c.1618_1620delinsTGT p.R540C Missense 8/20 - 1
10-43607646-G-T c.1622G>T p.C541F Missense 8/20 - 1
10-43607648-G-A c.1624G>A p.E542K Missense 8/20 - 20
10-43607648-G-C c.1624G>C p.E542Q Missense 8/20 - 1
10-43607649-A-T c.1625A>T p.E542V Missense 8/20 - 1
10-43607649-GA-G c.1625del p.E542Gfs*96 Frameshift 8/20 - 1
10-43607651-T-A c.1627T>A p.W543R Missense 8/20 - 2
10-43607651-T-C c.1627T>C p.W543R Missense 8/20 - 3
10-43607652-G-A c.1628G>A p.W543* Nonsense 8/20 - 4
10-43607653-G-A c.1629G>A p.W543* Nonsense 8/20 - 2
10-43607654-A-G c.1630A>G p.R544G Missense 8/20 - 1
10-43607654-AG-CA c.1630_1631delinsCA p.R544Q Missense 8/20 - 1
10-43607654-A-T c.1630A>T p.R544W Missense 8/20 - 1
10-43607655-G-A c.1631G>A p.R544K Missense 8/20 - 1
10-43607655-G-T c.1631G>T p.R544M Missense 8/20 - 1
10-43607656-G-C c.1632G>C p.R544S Missense 8/20 - 2
10-43607657-CA-GC c.1633_1634delinsGC p.Q545A Missense 8/20 - 1
10-43607657-C-T c.1633C>T p.Q545* Nonsense 8/20 - 4
10-43607658-A-G c.1634A>G p.Q545R Missense 8/20 - 1
10-43607660-G-A c.1636G>A p.G546R Missense 8/20 - 2
10-43607660-G-C c.1636G>C p.G546R Missense 8/20 - 2
10-43607660-GG-AA c.1636_1637delinsAA p.G546K Missense 8/20 - 1
10-43607660-G-T c.1636G>T p.G546* Nonsense 8/20 - 2
10-43607661-G-A c.1637G>A p.G546E Missense 8/20 - 1
10-43607661-G-C c.1637G>C p.G546A Missense 8/20 - 1
10-43607662-A-AT c.1638_1639insT p.D547* Nonsense 8/20 - 1
10-43607662-A-G c.1638A>G p.G546= Synonymous 8/20 - 2
10-43607664-A-C c.1640A>C p.D547A Missense 8/20 - 1
10-43607665-T-C c.1641T>C p.D547= Synonymous 8/20 - 5
10-43607666-G-A c.1642G>A p.G548S Missense 8/20 - 3
10-43607666-G-C c.1642G>C p.G548R Missense 8/20 - 2
10-43607667-G-C c.1643G>C p.G548A Missense 8/20 - 1
10-43607667-G-T c.1643G>T p.G548V Missense 8/20 - 3
10-43607672-G-A c.1648G>A p.G550R Missense 8/20 - 3
10-43607672-G-C c.1648G>C p.G550R Missense 8/20 - 1
10-43607672-G-T c.1648G>T p.G550W Missense 8/20 - 1
10-43607688-G-T c.1648+16G>T - IntronicSNV - 8/19 1
10-43607720-G-A c.1648+48G>A - IntronicSNV - 8/19 1
10-43607734-C-T c.1648+62C>T - IntronicSNV - 8/19 1
10-43607750-C-A c.1648+78C>A - IntronicSNV - 8/19 1
10-43607753-G-A c.1648+81G>A - IntronicSNV - 8/19 1
10-43607756-G-A c.1648+84G>A - IntronicSNV - 8/19 16
10-43607760-C-G c.1648+88C>G - IntronicSNV - 8/19 2
10-43607760-GC-G c.1648+88del - IntronicDeletion - 8/19 5
10-43607789-C-T c.1648+117C>T - IntronicSNV - 8/19 1
10-43607825-G-A c.1648+153G>A - IntronicSNV - 8/19 1
10-43608150-G-C c.1649-151G>C - IntronicSNV - 8/19 1
10-43608250-C-A c.1649-51C>A - IntronicSNV - 8/19 1
10-43608250-C-T c.1649-51C>T - IntronicSNV - 8/19 1
10-43608301-G-A c.1649G>A p.G550E Missense 9/20 - 4
10-43608302-G-T c.1650G>T p.G550= Synonymous 9/20 - 1
10-43608303-A-T c.1651A>T p.I551F Missense 9/20 - 1
10-43608303-ATCACCAGGAACTTCTCCACCTGCTCTCCCAGCA-GGTTGGTGATGGGGCTCTGGGACTTC c.1651_1684delinsGGTTGGTGATGGGGCTCTGGGACTTC p.I551Gfs*3 Frameshift 9/20 - 1
10-43608305-C-A c.1653C>A p.I551= Synonymous 9/20 - 2
10-43608307-C-G c.1655C>G p.T552S Missense 9/20 - 1
10-43608306-AC-A c.1656del p.R553Gfs*85 Frameshift 9/20 - 1
10-43608309-AG-CA c.1657_1658delinsCA p.R553Q Missense 9/20 - 1
10-43608309-AGG-TGT c.1657_1659delinsTGT p.R553C Missense 9/20 - 1
10-43608309-AG-TA c.1657_1658delinsTA p.R553* Nonsense 9/20 - 1
10-43608309-A-T c.1657A>T p.R553W Missense 9/20 - 2
10-43608310-G-A c.1658G>A p.R553K Missense 9/20 - 1
10-43608309-A-C c.1657A>C p.R553= Synonymous 9/20 - 2
10-43608311-G-A c.1659G>A p.R553= Synonymous 9/20 - 4
10-43608311-G-C c.1659G>C p.R553S Missense 9/20 - 1
10-43608311-G-T c.1659G>T p.R553S Missense 9/20 - 1
10-43608313-A-G c.1661A>G p.N554S Missense 9/20 - 2
10-43608314-C-A c.1662C>A p.N554K Missense 9/20 - 2
10-43608314-C-CAGAA c.1662_1663insAGAA p.F555Rfs*50 Frameshift 9/20 - 1
10-43608314-C-G c.1662C>G p.N554K Missense 9/20 - 2
10-43608315-T-C c.1663T>C p.F555L Missense 9/20 - 2
10-43608317-C-A c.1665C>A p.F555L Missense 9/20 - 2
10-43608317-C-G c.1665C>G p.F555L Missense 9/20 - 1
10-43608320-C-A c.1668C>A p.S556= Synonymous 9/20 - 1
10-43608320-C-G c.1668C>G p.S556= Synonymous 9/20 - 1
10-43608320-C-T c.1668C>T p.S556= Synonymous 9/20 - 1
10-43608319-CCACCTG-C c.1669_1674del p.T557_C558del InFrameDeletion 9/20 - 1
10-43608321-ACC-TAA c.1669_1671delinsTAA p.T557* Nonsense 9/20 - 3
10-43608321-A-G c.1669A>G p.T557A Missense 9/20 - 1
10-43608321-A-T c.1669A>T p.T557S Missense 9/20 - 1
10-43608322-C-T c.1670C>T p.T557I Missense 9/20 - 1
10-43608324-T-A c.1672T>A p.C558S Missense 9/20 - 1
10-43608324-T-C c.1672T>C p.C558R Missense 9/20 - 1
10-43608324-TG-AC c.1672_1673delinsAC p.C558T Missense 9/20 - 1
10-43608325-G-C c.1673G>C p.C558S Missense 9/20 - 1
10-43608328-C-T c.1676C>T p.S559F Missense 9/20 - 1
10-43608330-C-A c.1678C>A p.P560T Missense 9/20 - 1
10-43608330-C-T c.1678C>T p.P560S Missense 9/20 - 3
10-43608331-C-A c.1679C>A p.P560H Missense 9/20 - 4
10-43608329-TC-T c.1680del p.S561Afs*77 Frameshift 9/20 - 1
10-43608333-A-C c.1681A>C p.S561R Missense 9/20 - 1
10-43608333-A-G c.1681A>G p.S561G Missense 9/20 - 1
10-43608333-AG-CT c.1681_1682inv p.S561L Missense 9/20 - 1
10-43608333-A-T c.1681A>T p.S561C Missense 9/20 - 3
10-43608334-G-T c.1682G>T p.S561I Missense 9/20 - 2
10-43608336-A-T c.1684A>T p.T562S Missense 9/20 - 2
10-43608337-C-A c.1685C>A p.T562N Missense 9/20 - 1
10-43608337-C-G c.1685C>G p.T562S Missense 9/20 - 1
10-43608337-C-T c.1685C>T p.T562I Missense 9/20 - 1
10-43608338-C-T c.1686C>T p.T562= Synonymous 9/20 - 1
10-43608339-A-G c.1687A>G p.K563E Missense 9/20 - 1
10-43608341-G-C c.1689G>C p.K563N Missense 9/20 - 1
10-43608341-G-T c.1689G>T p.K563N Missense 9/20 - 1
10-43608342-A-C c.1690A>C p.T564P Missense 9/20 - 1
10-43608342-A-G c.1690A>G p.T564A Missense 9/20 - 1
10-43608343-C-A c.1691C>A p.T564N Missense 9/20 - 4
10-43608345-T-A c.1693T>A p.C565S Missense 9/20 - 1
10-43608345-TG-AC c.1693_1694delinsAC p.C565T Missense 9/20 - 1
10-43608346-G-C c.1694G>C p.C565S Missense 9/20 - 1
10-43608346-G-GA c.1694_1695insA p.C565* Nonsense 9/20 - 1
10-43608346-G-T c.1694G>T p.C565F Missense 9/20 - 3
10-43608348-C-A c.1696C>A p.P566T Missense 9/20 - 7
10-43608348-C-T c.1696C>T p.P566S Missense 9/20 - 2
10-43608349-C-A c.1697C>A p.P566H Missense 9/20 - 2
10-43608350-C-A c.1698C>A p.P566= Synonymous 9/20 - 1
10-43608350-C-G c.1698C>G p.P566= Synonymous 9/20 - 1
10-43608350-C-T c.1698C>T p.P566= Synonymous 9/20 - 4
10-43608351-G-A c.1699G>A p.D567N Missense 9/20 - 19
10-43608351-GAC-CAA c.1699_1701delinsCAA p.D567Q Missense 9/20 - 1
10-43608351-G-T c.1699G>T p.D567Y Missense 9/20 - 2
10-43608352-A-C c.1700A>C p.D567A Missense 9/20 - 1
10-43608352-A-G c.1700A>G p.D567G Missense 9/20 - 1
10-43608352-GA-G c.1700del p.D567Afs*71 Frameshift 9/20 - 1
10-43608353-C-A c.1701C>A p.D567E Missense 9/20 - 2
10-43608353-C-T c.1701C>T p.D567= Synonymous 9/20 - 2
10-43608354-G-A c.1702G>A p.G568S Missense 9/20 - 4
10-43608354-G-C c.1702G>C p.G568R Missense 9/20 - 3
10-43608354-GGC-TGG c.1702_1704delinsTGG p.G568W Missense 9/20 - 1
10-43608356-C-T c.1704C>T p.G568= Synonymous 9/20 - 1
10-43608357-C-A c.1705C>A p.H569N Missense 9/20 - 2
10-43608357-C-T c.1705C>T p.H569Y Missense 9/20 - 1
10-43608358-A-G c.1706A>G p.H569R Missense 9/20 - 1
10-43608359-C-A c.1707C>A p.H569Q Missense 9/20 - 1
10-43608359-C-G c.1707C>G p.H569Q Missense 9/20 - 1
10-43608359-C-T c.1707C>T p.H569= Synonymous 9/20 - 1
10-43608362-C-A c.1710C>A p.C570* Nonsense 9/20 - 2
10-43608362-C-T c.1710C>T p.C570= Synonymous 9/20 - 2
10-43608363-G-A c.1711G>A p.D571N Missense 9/20 - 14
10-43608367-T-A c.1715T>A p.V572D Missense 9/20 - 1
10-43608367-T-C c.1715T>C p.V572A Missense 9/20 - 1
10-43608369-G-A c.1717G>A p.V573M Missense 9/20 - 7
10-43608369-G-C c.1717G>C p.V573L Missense 9/20 - 1
10-43608369-G-T c.1717G>T p.V573L Missense 9/20 - 1
10-43608370-T-A c.1718T>A p.V573E Missense 9/20 - 1
10-43608372-G-A c.1720G>A p.E574K Missense 9/20 - 3
10-43608374-G-C c.1722G>C p.E574D Missense 9/20 - 1
10-43608374-G-T c.1722G>T p.E574D Missense 9/20 - 4
10-43608375-A-G c.1723A>G p.T575A Missense 9/20 - 1
10-43608376-C-T c.1724C>T p.T575I Missense 9/20 - 2
10-43608378-C-A c.1726C>A p.Q576K Missense 9/20 - 1
10-43608378-C-T c.1726C>T p.Q576* Nonsense 9/20 - 1
10-43608379-A-G c.1727A>G p.Q576R Missense 9/20 - 1
10-43608381-G-T c.1729G>T p.D577Y Missense 9/20 - 1
10-43608382-A-C c.1730A>C p.D577A Missense 9/20 - 2
10-43608383-C-A c.1731C>A p.D577E Missense 9/20 - 1
10-43608383-C-G c.1731C>G p.D577E Missense 9/20 - 1
10-43608384-A-G c.1732A>G p.I578V Missense 9/20 - 1
10-43608385-T-G c.1733T>G p.I578S Missense 9/20 - 1
10-43608385-TCAA-T c.1736_1738del p.N579del InFrameDeletion 9/20 - 2
10-43608386-CA-C c.1736del p.N579Tfs*59 Frameshift 9/20 - 1
10-43608389-C-A c.1737C>A p.N579K Missense 9/20 - 1
10-43608389-C-G c.1737C>G p.N579K Missense 9/20 - 2
10-43608389-C-T c.1737C>T p.N579= Synonymous 9/20 - 1
10-43608390-A-C c.1738A>C p.I580L Missense 9/20 - 1
10-43608392-T-C c.1740T>C p.I580= Synonymous 9/20 - 1
10-43608394-G-C c.1742G>C p.C581S Missense 9/20 - 1
10-43608394-TG-T c.1742del p.C581Sfs*57 Frameshift 9/20 - 1
10-43608396-C-T c.1744C>T p.P582S Missense 9/20 - 1
10-43608397-C-A c.1745C>A p.P582H Missense 9/20 - 2
10-43608397-C-T c.1745C>T p.P582L Missense 9/20 - 1
10-43608399-C-T c.1747C>T p.Q583* Nonsense 9/20 - 1
10-43608401-G-A c.1749G>A p.Q583= Synonymous 9/20 - 1
10-43608401-G-C c.1749G>C p.Q583H Missense 9/20 - 1
10-43608401-G-T c.1749G>T p.Q583H Missense 9/20 - 1
10-43608402-G-A c.1750G>A p.D584N Missense 9/20 - 2
10-43608404-C-T c.1752C>T p.D584= Synonymous 9/20 - 1
10-43608405-T-A c.1753T>A p.C585S Missense 9/20 - 5
10-43608405-T-C c.1753T>C p.C585R Missense 9/20 - 1
10-43608406-G-C c.1754G>C p.C585S Missense 9/20 - 4
10-43608406-TG-T c.1754del p.C585Sfs*53 Frameshift 9/20 - 1
10-43608408-C-T c.1756C>T p.L586F Missense 9/20 - 2
10-43608409-T-TC c.1759dup p.R587Pfs*17 SpliceDonorInsertion - - 1
10-43608411-C-A c.1759C>A p.R587= Synonymous 9/20 - 2
10-43608411-C-T c.1759C>T p.R587W Missense 9/20 - 8
10-43609005-G-C c.1761G>C p.R587= Synonymous 10/20 - 1
10-43609005-G-T c.1761G>T p.R587= Synonymous 10/20 - 1
10-43608412-G-A c.1759+1G>A - IntronicSNV - 9/19 3
10-43608475-C-T c.1759+64C>T - IntronicSNV - 9/19 1
10-43608522-G-C c.1759+111G>C - IntronicSNV - 9/19 5
10-43608653-G-A c.1759+242G>A - IntronicSNV - 9/19 2
10-43608653-G-C c.1759+242G>C - IntronicSNV - 9/19 1
10-43608807-G-C c.1760-197G>C - IntronicSNV - 9/19 1
10-43608807-G-T c.1760-197G>T - IntronicSNV - 9/19 1
10-43608864-C-G c.1760-140C>G - IntronicSNV - 9/19 2
10-43608967-C-T c.1760-37C>T - IntronicSNV - 9/19 1
10-43608971-C-T c.1760-33C>T - IntronicSNV - 9/19 1
10-43609004-G-C c.1760G>C p.R587P Missense 10/20 - 1
10-43609005-G-A c.1761G>A p.R587= Synonymous 10/20 - 2
10-43609006-G-A c.1762G>A p.G588S Missense 10/20 - 3
10-43609002-AG-A c.1763del p.G588Afs*50 Frameshift 10/20 - 2
10-43609007-G-A c.1763G>A p.G588D Missense 10/20 - 2
10-43609009-A-C c.1765A>C p.S589R Missense 10/20 - 1
10-43609009-AG-TT c.1765_1766delinsTT p.S589F Missense 10/20 - 1
10-43609010-AG-A c.1766del p.S589Tfs*49 Frameshift 10/20 - 1
10-43609010-G-A c.1766G>A p.S589N Missense 10/20 - 1
10-43609010-G-T c.1766G>T p.S589I Missense 10/20 - 1
10-43609012-A-G c.1768A>G p.I590V Missense 10/20 - 2
10-43609014-TTGTTGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGG-T c.1770_1820del p.V591_G607del InFrameDeletion 10/20 - 1
10-43609015-G-A c.1771G>A p.V591I Missense 10/20 - 3
10-43609015-G-T c.1771G>T p.V591F Missense 10/20 - 1
10-43609016-T-G c.1772T>G p.V591G Missense 10/20 - 1
10-43609018-GGG-AGC c.1774_1776delinsAGC p.G592S Missense 10/20 - 1
10-43609018-TGGGGGACACGAGCCTGGGGAGCCCCGGGGGATTAAAGCTGGCTATGGC-T c.1774_1821del p.G592_G607del InFrameDeletion 10/20 - 1
10-43609019-G-A c.1775G>A p.G592E Missense 10/20 - 4
10-43609020-G-A c.1776G>A p.G592= Synonymous 10/20 - 1
10-43609021-G-A c.1777G>A p.G593R Missense 10/20 - 2
10-43609021-G-C c.1777G>C p.G593R Missense 10/20 - 1
10-43609021-GGA-TGT c.1777_1779delinsTGT p.G593C Missense 10/20 - 1
10-43609021-G-T c.1777G>T p.G593* Nonsense 10/20 - 3
10-43609022-G-A c.1778G>A p.G593E Missense 10/20 - 9
10-43609022-G-T c.1778G>T p.G593V Missense 10/20 - 1
10-43609023-A-C c.1779A>C p.G593= Synonymous 10/20 - 2
10-43609023-A-G c.1779A>G p.G593= Synonymous 10/20 - 4
10-43609023-A-T c.1779A>T p.G593= Synonymous 10/20 - 2
10-43609024-C-T c.1780C>T p.H594Y Missense 10/20 - 3
10-43609025-A-G c.1781A>G p.H594R Missense 10/20 - 3
10-43609026-C-T c.1782C>T p.H594= Synonymous 10/20 - 1
10-43609027-G-A c.1783G>A p.E595K Missense 10/20 - 11
10-43609027-G-C c.1783G>C p.E595Q Missense 10/20 - 4
10-43609028-A-C c.1784A>C p.E595A Missense 10/20 - 1
10-43609028-A-G c.1784A>G p.E595G Missense 10/20 - 2
10-43609029-G-T c.1785G>T p.E595D Missense 10/20 - 1
10-43609030-C-A c.1786C>A p.P596T Missense 10/20 - 1
10-43609031-C-A c.1787C>A p.P596H Missense 10/20 - 1
10-43609031-C-T c.1787C>T p.P596L Missense 10/20 - 2
10-43609032-T-A c.1788T>A p.P596= Synonymous 10/20 - 1
10-43609032-T-C c.1788T>C p.P596= Synonymous 10/20 - 1
10-43609032-T-G c.1788T>G p.P596= Synonymous 10/20 - 1
10-43609033-G-T c.1789G>T p.G597W Missense 10/20 - 1
10-43609034-G-T c.1790G>T p.G597V Missense 10/20 - 2
10-43609036-G-A c.1792G>A p.E598K Missense 10/20 - 7
10-43609036-G-T c.1792G>T p.E598* Nonsense 10/20 - 1
10-43609037-A-C c.1793A>C p.E598A Missense 10/20 - 1
10-43609037-A-G c.1793A>G p.E598G Missense 10/20 - 1
10-43609037-A-T c.1793A>T p.E598V Missense 10/20 - 1
10-43609038-G-C c.1794G>C p.E598D Missense 10/20 - 2
10-43609038-G-T c.1794G>T p.E598D Missense 10/20 - 2
10-43609039-C-T c.1795C>T p.P599S Missense 10/20 - 1
10-43609040-C-A c.1796C>A p.P599H Missense 10/20 - 2
10-43609040-C-T c.1796C>T p.P599L Missense 10/20 - 1
10-43609042-CGG-TGT c.1798_1800delinsTGT p.R600C Missense 10/20 - 1
10-43609042-C-T c.1798C>T p.R600W Missense 10/20 - 1
10-43609043-G-A c.1799G>A p.R600Q Missense 10/20 - 19
10-43609043-GG-AT c.1799_1800delinsAT p.R600H Missense 10/20 - 1
10-43609043-G-T c.1799G>T p.R600L Missense 10/20 - 2
10-43609045-G-A c.1801G>A p.G601R Missense 10/20 - 3
10-43609045-G-T c.1801G>T p.G601W Missense 10/20 - 1
10-43609046-G-A c.1802G>A p.G601E Missense 10/20 - 5
10-43609047-G-A c.1803G>A p.G601= Synonymous 10/20 - 1
10-43609048-A-G c.1804A>G p.I602V Missense 10/20 - 2
10-43609051-A-C c.1807A>C p.K603Q Missense 10/20 - 6
10-43609051-A-G c.1807A>G p.K603E Missense 10/20 - 4
10-43609053-A-T c.1809A>T p.K603N Missense 10/20 - 1
10-43609054-G-A c.1810G>A p.A604T Missense 10/20 - 1
10-43609054-G-T c.1810G>T p.A604S Missense 10/20 - 2
10-43609055-C-A c.1811C>A p.A604D Missense 10/20 - 1
10-43609058-G-A c.1814G>A p.G605D Missense 10/20 - 1
10-43609059-C-A c.1815C>A p.G605= Synonymous 10/20 - 2
10-43609059-C-G c.1815C>G p.G605= Synonymous 10/20 - 2
10-43609059-C-T c.1815C>T p.G605= Synonymous 10/20 - 3
10-43609060-T-C c.1816T>C p.Y606H Missense 10/20 - 1
10-43609061-A-G c.1817A>G p.Y606C Missense 10/20 - 12
10-43609061-A-T c.1817A>T p.Y606F Missense 10/20 - 1
10-43609064-G-C c.1820G>C p.G607A Missense 10/20 - 1
10-43609069-T-A c.1825T>A p.C609S Missense 10/20 - 9
10-43609069-T-C c.1825T>C p.C609R Missense 10/20 - 20
10-43609069-T-G c.1825T>G p.C609G Missense 10/20 - 7
10-43609069-TG-AC c.1825_1826delinsAC p.C609T Missense 10/20 - 3
10-43609070-G-C c.1826G>C p.C609S Missense 10/20 - 14
10-43609070-G-A c.1826G>A p.C609Y Missense 10/20 - 43
10-43609070-G-T c.1826G>T p.C609F Missense 10/20 - 16
10-43609071-C-A c.1827C>A p.C609* Nonsense 10/20 - 1
10-43609071-C-G c.1827C>G p.C609W Missense 10/20 - 5
10-43609071-C-T c.1827C>T p.C609= Synonymous 10/20 - 1
10-43609073-A-G c.1829A>G p.N610S Missense 10/20 - 2
10-43609075-T-A c.1831T>A p.C611S Missense 10/20 - 13
10-43609075-T-C c.1831T>C p.C611R Missense 10/20 - 23
10-43609075-T-G c.1831T>G p.C611G Missense 10/20 - 6
10-43609075-TGC-AAG c.1831_1833delinsAAG p.C611K Missense 10/20 - 1
10-43609076-G-C c.1832G>C p.C611S Missense 10/20 - 11
10-43609076-G-A c.1832G>A p.C611Y Missense 10/20 - 37
10-43609076-G-T c.1832G>T p.C611F Missense 10/20 - 18
10-43609077-C-A c.1833C>A p.C611* Nonsense 10/20 - 1
10-43609077-C-G c.1833C>G p.C611W Missense 10/20 - 15
10-43609077-C-T c.1833C>T p.C611= Synonymous 10/20 - 1
10-43609073-ACTGCTTCCCTGAGGAGGAGAAGTGCTT-A c.1834_1860del p.F612_C620del InFrameDeletion 10/20 - 11
10-43609078-T-C c.1834T>C p.F612L Missense 10/20 - 1
10-43609079-T-A c.1835T>A p.F612Y Missense 10/20 - 1
10-43609081-C-T c.1837C>T p.P613S Missense 10/20 - 2
10-43609082-C-T c.1838C>T p.P613L Missense 10/20 - 8
10-43609083-CT-C c.1839del p.E614Rfs*24 Frameshift 10/20 - 1
10-43609083-T-C c.1839T>C p.P613= Synonymous 10/20 - 1
10-43609084-G-A c.1840G>A p.E614K Missense 10/20 - 2
10-43609086-G-GT c.1842_1843insT p.E615* Nonsense 10/20 - 1
10-43609087-G-A c.1843G>A p.E615K Missense 10/20 - 3
10-43609088-A-G c.1844A>G p.E615G Missense 10/20 - 1
10-43609089-G-T c.1845G>T p.E615D Missense 10/20 - 1
10-43609083-TGAG-T c.1846_1848del p.E616del InFrameDeletion 10/20 - 4
10-43609090-GAG-ATC c.1846_1848delinsATC p.E616I Missense 10/20 - 1
10-43609090-G-C c.1846G>C p.E616Q Missense 10/20 - 2
10-43609092-G-C c.1848G>C p.E616D Missense 10/20 - 1
10-43609092-G-T c.1848G>T p.E616D Missense 10/20 - 1
10-43609093-A-G c.1849A>G p.K617E Missense 10/20 - 1
10-43609095-G-C c.1851G>C p.K617N Missense 10/20 - 1
10-43609095-G-T c.1851G>T p.K617N Missense 10/20 - 1
10-43609096-T-A c.1852T>A p.C618S Missense 10/20 - 46
10-43609096-T-C c.1852T>C p.C618R Missense 10/20 - 70
10-43609096-T-G c.1852T>G p.C618G Missense 10/20 - 27
10-43609097-G-C c.1853G>C p.C618S Missense 10/20 - 50
10-43609097-G-A c.1853G>A p.C618Y Missense 10/20 - 33
10-43609097-G-T c.1853G>T p.C618F Missense 10/20 - 38
10-43609098-C-A c.1854C>A p.C618* Nonsense 10/20 - 2
10-43609098-C-G c.1854C>G p.C618W Missense 10/20 - 2
10-43609098-C-T c.1854C>T p.C618= Synonymous 10/20 - 1
10-43609101-C-T c.1857C>T p.F619= Synonymous 10/20 - 1
10-43609100-TCTG-T c.1858_1860del p.C620del InFrameDeletion 10/20 - 2
10-43609102-T-A c.1858T>A p.C620S Missense 10/20 - 22
10-43609102-T-C c.1858T>C p.C620R Missense 10/20 - 86
10-43609102-T-G c.1858T>G p.C620G Missense 10/20 - 16
10-43609102-TG-CT c.1858_1859delinsCT p.C620L Missense 10/20 - 1
10-43609102-TG-GC c.1858_1859delinsGC p.C620A Missense 10/20 - 2
10-43609103-G-C c.1859G>C p.C620S Missense 10/20 - 23
10-43609103-G-A c.1859G>A p.C620Y Missense 10/20 - 16
10-43609103-G-T c.1859G>T p.C620F Missense 10/20 - 30
10-43609104-C-A c.1860C>A p.C620* Nonsense 10/20 - 2
10-43609104-C-G c.1860C>G p.C620W Missense 10/20 - 13
10-43609104-C-T c.1860C>T p.C620= Synonymous 10/20 - 3
10-43609105-G-A c.1861G>A p.E621K Missense 10/20 - 4
10-43609105-G-T c.1861G>T p.E621* Nonsense 10/20 - 2
10-43609106-A-G c.1862A>G p.E621G Missense 10/20 - 1
10-43609107-G-C c.1863G>C p.E621D Missense 10/20 - 1
10-43609107-G-T c.1863G>T p.E621D Missense 10/20 - 1
10-43609110-C-T c.1866C>T p.P622= Synonymous 10/20 - 1
10-43609111-G-A c.1867G>A p.E623K Missense 10/20 - 7
10-43609111-G-T c.1867G>T p.E623* Nonsense 10/20 - 1
10-43609112-A-G c.1868A>G p.E623G Missense 10/20 - 1
10-43609112-A-T c.1868A>T p.E623V Missense 10/20 - 1
10-43609116-C-T c.1872C>T p.D624= Synonymous 10/20 - 1
10-43609117-A-G c.1873A>G p.I625V Missense 10/20 - 1
10-43609119-C-A c.1875C>A p.I625= Synonymous 10/20 - 1
10-43609119-C-G c.1875C>G p.I625M Missense 10/20 - 8
10-43609119-C-T c.1875C>T p.I625= Synonymous 10/20 - 1
10-43609120-C-A c.1876C>A p.Q626K Missense 10/20 - 3
10-43609120-C-T c.1876C>T p.Q626* Nonsense 10/20 - 1
10-43609121-A-T c.1877A>T p.Q626L Missense 10/20 - 1
10-43609122-G-A c.1878G>A p.Q626= Synonymous 10/20 - 1
10-43609123-G-A c.1879G>A p.D627N Missense 10/20 - 5
10-43609124-G-A c.1879+1G>A - IntronicSNV - 10/19 2
10-43609125-T-C c.1879+2T>C - IntronicSNV - 10/19 1
10-43609126-G-A c.1879+3G>A - IntronicSNV - 10/19 1
10-43609127-A-G c.1879+4A>G - IntronicSNV - 10/19 1
10-43609128-G-C c.1879+5G>C - IntronicSNV - 10/19 1
10-43609133-T-C c.1879+10T>C - IntronicSNV - 10/19 1
10-43609136-C-T c.1879+13C>T - IntronicSNV - 10/19 1
10-43609138-G-C c.1879+15G>C - IntronicSNV - 10/19 1
10-43609150-A-G c.1879+27A>G - IntronicSNV - 10/19 1
10-43609143-GACC-G c.1879+30_1879+32del - IntronicDeletion - 10/19 1
10-43609155-C-T c.1879+32C>T - IntronicSNV - 10/19 1
10-43609178-A-G c.1879+55A>G - IntronicSNV - 10/19 1
10-43609180-A-G c.1879+57A>G - IntronicSNV - 10/19 1
10-43609205-A-G c.1879+82A>G - IntronicSNV - 10/19 1
10-43609928-A-G c.1880A>G p.D627G Missense 11/20 - 2
10-43609928-GATCCACTGTGCGA-G c.1880_1892del p.D627Afs*7 SpliceAcceptorDeletion 11/20 - 1
10-43609929-AT-A c.1881del p.P628Hfs*10 Frameshift 11/20 - 1
10-43609929-ATCCACTGTGCGACGAGCT-A c.1881_1898del p.D627_L633delinsE SpliceAcceptorDeletion 11/20 - 1
10-43609929-T-C c.1881T>C p.D627= Synonymous 11/20 - 1
10-43609930-C-A c.1882C>A p.P628T Missense 11/20 - 2
10-43609930-C-T c.1882C>T p.P628S Missense 11/20 - 3
10-43609929-T-TC c.1883dup p.L629Tfs*45 SpliceAcceptorInsertion 11/20 - 1
10-43609931-C-A c.1883C>A p.P628Q Missense 11/20 - 1
10-43609931-C-G c.1883C>G p.P628R Missense 11/20 - 1
10-43609931-C-T c.1883C>T p.P628L Missense 11/20 - 3
10-43609932-A-C c.1884A>C p.P628= Synonymous 11/20 - 2
10-43609932-A-G c.1884A>G p.P628= Synonymous 11/20 - 4
10-43609932-A-T c.1884A>T p.P628= Synonymous 11/20 - 2
10-43609933-ACTGTGCGACGAGCTG-A c.1885_1899del p.L629_L633del InFrameDeletion 11/20 - 1
10-43609934-CTGTGCG-C c.1886_1891del p.L629_D631delinsH MultiAAMissense 11/20 - 4
10-43609934-T-A c.1886T>A p.L629Q Missense 11/20 - 3
10-43609934-T-C c.1886T>C p.L629P Missense 11/20 - 2
10-43609933-C-T c.1885C>T p.L629= Synonymous 11/20 - 2
10-43609935-G-A c.1887G>A p.L629= Synonymous 11/20 - 2
10-43609935-G-C c.1887G>C p.L629= Synonymous 11/20 - 2
10-43609935-G-T c.1887G>T p.L629= Synonymous 11/20 - 2
10-43609936-GT-G c.1888del p.C630Afs*8 Frameshift 11/20 - 1
10-43609936-GTGC-G c.1888_1890del p.C630del InFrameDeletion 11/20 - 1
10-43609936-T-A c.1888T>A p.C630S Missense 11/20 - 9
10-43609936-T-C c.1888T>C p.C630R Missense 11/20 - 43
10-43609936-T-G c.1888T>G p.C630G Missense 11/20 - 6
10-43609936-TG-AC c.1888_1889delinsAC p.C630T Missense 11/20 - 1
10-43609936-TG-GC c.1888_1889delinsGC p.C630A Missense 11/20 - 1
10-43609937-G-C c.1889G>C p.C630S Missense 11/20 - 9
10-43609937-G-A c.1889G>A p.C630Y Missense 11/20 - 15
10-43609937-G-T c.1889G>T p.C630F Missense 11/20 - 9
10-43609936-TGC-T c.1890_1891del p.C630* Frameshift 11/20 - 1
10-43609938-C-G c.1890C>G p.C630W Missense 11/20 - 1
10-43609938-C-T c.1890C>T p.C630= Synonymous 11/20 - 4
10-43609938-GC-G c.1890del p.C630Wfs*8 Frameshift 11/20 - 1
10-43609939-G-A c.1891G>A p.D631N Missense 11/20 - 13
10-43609939-GA-AC c.1891_1892delinsAC p.D631T Missense 11/20 - 1
10-43609939-G-T c.1891G>T p.D631Y Missense 11/20 - 46
10-43609940-A-G c.1892A>G p.D631G Missense 11/20 - 19
10-43609940-A-T c.1892A>T p.D631V Missense 11/20 - 4
10-43609937-GCGA-G c.1893_1895del p.D631del InFrameDeletion 11/20 - 1
10-43609941-ACGAGCT-A c.1893_1898del p.D631_L633delinsE MultiAAMissense 11/20 - 16
10-43609941-C-A c.1893C>A p.D631E Missense 11/20 - 5
10-43609941-C-G c.1893C>G p.D631E Missense 11/20 - 3
10-43609941-CGAGCTG-A c.1893_1899delinsA p.D631_L633delinsE MultiAAMissense 11/20 - 1
10-43609941-C-T c.1893C>T p.D631= Synonymous 11/20 - 8
10-43609940-ACGAGCTGTG-A c.1894_1902del p.E632_C634del InFrameDeletion 11/20 - 1
10-43609942-CGAGCTG-C c.1894_1899del p.E632_L633del InFrameDeletion 11/20 - 25
10-43609942-CGAGCTGTGCCG-C c.1894_1904del p.E632Hfs*38 Frameshift 11/20 - 2
10-43609942-CG-C c.1894del p.E632Sfs*6 Frameshift 11/20 - 1
10-43609942-G-A c.1894G>A p.E632K Missense 11/20 - 17
10-43609942-G-T c.1894G>T p.E632* Nonsense 11/20 - 1
10-43609943-AG-GTCTTTGT c.1895_1896delinsGTCTTTGT p.E632delinsGLC MultiAAMissense 11/20 - 2
10-43609940-ACGAGCTGTGCCGCACGGTGAT-A c.1895_1915del p.E632_I638del InFrameDeletion 11/20 - 2
10-43609941-CGAGCTGTGCCGCACG-C c.1895_1909del p.E632_T636del InFrameDeletion 11/20 - 1
10-43609943-A-C c.1895A>C p.E632A Missense 11/20 - 1
10-43609943-A-G c.1895A>G p.E632G Missense 11/20 - 3
10-43609943-GAGC-G c.1895_1897del p.E632_L633delinsV MultiAAMissense 11/20 - 11
10-43609943-GAGCTGT-G c.1895_1900del p.E632_C634delinsG MultiAAMissense 11/20 - 3
10-43609944-G-A c.1896G>A p.E632= Synonymous 11/20 - 1
10-43609944-G-C c.1896G>C p.E632D Missense 11/20 - 1
10-43609944-GC-CG c.1896_1897delinsCG p.E632_L633delinsDV MultiAAMissense 11/20 - 1
10-43609944-GCTGT-CGTGC c.1896_1900delinsCGTGC p.E632_C634delinsDVR MultiAAMissense 11/20 - 2
10-43609943-AGCT-A c.1897_1899del p.L633del InFrameDeletion 11/20 - 15
10-43609945-C-A c.1897C>A p.L633M Missense 11/20 - 1
10-43609945-C-G c.1897C>G p.L633V Missense 11/20 - 4
10-43609945-GCTGTGCCGCACGGTGATCGCA-G c.1897_1917del p.L633_A639del InFrameDeletion 11/20 - 1
10-43609946-T-C c.1898T>C p.L633P Missense 11/20 - 2
10-43609946-T-G c.1898T>G p.L633R Missense 11/20 - 1
10-43609945-C-T c.1897C>T p.L633= Synonymous 11/20 - 3
10-43609947-G-A c.1899G>A p.L633= Synonymous 11/20 - 1
10-43609947-G-C c.1899G>C p.L633= Synonymous 11/20 - 1
10-43609947-G-T c.1899G>T p.L633= Synonymous 11/20 - 1
10-43609947-GT-TG c.1899_1900delinsTG p.C634G Missense 11/20 - 1
10-43609946-T-TGTGCCGCAC c.1900_1908dup p.C634_T636dup InFrameInsertion 11/20 - 4
10-43609948-GTGC-G c.1900_1902del p.C634del InFrameDeletion 11/20 - 1
10-43609948-T-A c.1900T>A p.C634S Missense 11/20 - 37
10-43609948-T-C c.1900T>C p.C634R Missense 11/20 - 250
10-43609948-T-G c.1900T>G p.C634G Missense 11/20 - 49
10-43609948-TG-AC c.1900_1901delinsAC p.C634T Missense 11/20 - 1
10-43609948-TGC-AAG c.1900_1902delinsAAG p.C634K Missense 11/20 - 2
10-43609948-TG-CT c.1900_1901delinsCT p.C634L Missense 11/20 - 1
10-43609948-TG-GC c.1900_1901delinsGC p.C634A Missense 11/20 - 5
10-43609949-G-C c.1901G>C p.C634S Missense 11/20 - 33
10-43609949-G-A c.1901G>A p.C634Y Missense 11/20 - 166
10-43609949-GC-TG c.1901_1902delinsTG p.C634L Missense 11/20 - 3
10-43609949-G-T c.1901G>T p.C634F Missense 11/20 - 59
10-43609950-C-A c.1902C>A p.C634* Nonsense 11/20 - 4
10-43609950-C-G c.1902C>G p.C634W Missense 11/20 - 157
10-43609950-C-T c.1902C>T p.C634= Synonymous 11/20 - 5
10-43609950-C-CCCTAAG c.1903_1904insCTAAGC p.C634_R635insPK InFrameInsertion 11/20 - 2
10-43609951-C-G c.1903C>G p.R635G Missense 11/20 - 2
10-43609951-C-T c.1903C>T p.R635C Missense 11/20 - 9
10-43609952-G-A c.1904G>A p.R635H Missense 11/20 - 13
10-43609952-G-T c.1904G>T p.R635L Missense 11/20 - 4
10-43609953-C-A c.1905C>A p.R635= Synonymous 11/20 - 1
10-43609953-C-G c.1905C>G p.R635= Synonymous 11/20 - 1
10-43609953-C-T c.1905C>T p.R635= Synonymous 11/20 - 1
10-43609954-A-C c.1906A>C p.T636P Missense 11/20 - 4
10-43609954-ACGGTG-TGTAGGACA c.1906_1911delinsTGTAGGACA p.T636_V637delinsCRT MultiAAMissense 11/20 - 1
10-43609954-A-G c.1906A>G p.T636A Missense 11/20 - 2
10-43609954-A-T c.1906A>T p.T636S Missense 11/20 - 2
10-43609954-CACG-C c.1906_1908del p.T636del InFrameDeletion 11/20 - 1
10-43609955-C-G c.1907C>G p.T636R Missense 11/20 - 1
10-43609955-C-T c.1907C>T p.T636M Missense 11/20 - 23
10-43609954-A-ACGTGC c.1908_1909insTGCCG p.V637Cfs*3 Frameshift 11/20 - 1
10-43609956-G-A c.1908G>A p.T636= Synonymous 11/20 - 10
10-43609956-G-C c.1908G>C p.T636= Synonymous 11/20 - 6
10-43609956-G-T c.1908G>T p.T636= Synonymous 11/20 - 7
10-43609957-G-A c.1909G>A p.V637M Missense 11/20 - 6
10-43609958-T-C c.1910T>C p.V637A Missense 11/20 - 3
10-43609959-G-A c.1911G>A p.V637= Synonymous 11/20 - 2
10-43609959-G-C c.1911G>C p.V637= Synonymous 11/20 - 2
10-43609959-G-T c.1911G>T p.V637= Synonymous 11/20 - 3
10-43609958-TGATCGCA-T c.1912_1918del p.I638Pfs*35 Frameshift 11/20 - 2
10-43609960-A-G c.1912A>G p.I638V Missense 11/20 - 2
10-43609960-A-T c.1912A>T p.I638F Missense 11/20 - 1
10-43609960-GA-G c.1912del p.I638Sfs*37 Frameshift 11/20 - 1
10-43609960-GATC-G c.1912_1914del p.I638del InFrameDeletion 11/20 - 1
10-43609961-T-C c.1913T>C p.I638T Missense 11/20 - 1
10-43609962-C-A c.1914C>A p.I638= Synonymous 11/20 - 2
10-43609962-C-G c.1914C>G p.I638M Missense 11/20 - 2
10-43609962-C-T c.1914C>T p.I638= Synonymous 11/20 - 3
10-43609962-TC-T c.1914del p.I638Mfs*37 Frameshift 11/20 - 1
10-43609963-G-A c.1915G>A p.A639T Missense 11/20 - 7
10-43609963-GCA-CATAGG c.1915_1917delinsCATAGG p.A639delinsHR MultiAAMissense 11/20 - 1
10-43609963-G-T c.1915G>T p.A639S Missense 11/20 - 1
10-43609964-C-G c.1916C>G p.A639G Missense 11/20 - 4
10-43609964-C-T c.1916C>T p.A639V Missense 11/20 - 1
10-43609962-CGCA-C c.1917_1919del p.A641del InFrameDeletion 11/20 - 1
10-43609965-A-C c.1917A>C p.A639= Synonymous 11/20 - 1
10-43609965-A-G c.1917A>G p.A639= Synonymous 11/20 - 1
10-43609965-A-T c.1917A>T p.A639= Synonymous 11/20 - 1
10-43609966-G-A c.1918G>A p.A640T Missense 11/20 - 2
10-43609966-G-C c.1918G>C p.A640P Missense 11/20 - 1
10-43609966-G-T c.1918G>T p.A640S Missense 11/20 - 1
10-43609967-C-A c.1919C>A p.A640D Missense 11/20 - 1
10-43609967-C-G c.1919C>G p.A640G Missense 11/20 - 11
10-43609967-C-T c.1919C>T p.A640V Missense 11/20 - 3
10-43609968-C-A c.1920C>A p.A640= Synonymous 11/20 - 3
10-43609968-C-G c.1920C>G p.A640= Synonymous 11/20 - 3
10-43609968-C-T c.1920C>T p.A640= Synonymous 11/20 - 5
10-43609969-G-A c.1921G>A p.A641T Missense 11/20 - 12
10-43609969-G-T c.1921G>T p.A641S Missense 11/20 - 6
10-43609970-C-A c.1922C>A p.A641D Missense 11/20 - 1
10-43609970-C-G c.1922C>G p.A641G Missense 11/20 - 4
10-43609970-C-T c.1922C>T p.A641V Missense 11/20 - 1
10-43609971-T-A c.1923T>A p.A641= Synonymous 11/20 - 1
10-43609971-T-C c.1923T>C p.A641= Synonymous 11/20 - 2
10-43609971-T-G c.1923T>G p.A641= Synonymous 11/20 - 1
10-43609972-G-A c.1924G>A p.V642I Missense 11/20 - 1
10-43609972-G-C c.1924G>C p.V642L Missense 11/20 - 1
10-43609972-G-T c.1924G>T p.V642F Missense 11/20 - 1
10-43609973-T-C c.1925T>C p.V642A Missense 11/20 - 2
10-43609973-T-G c.1925T>G p.V642G Missense 11/20 - 1
10-43609974-C-A c.1926C>A p.V642= Synonymous 11/20 - 3
10-43609974-C-G c.1926C>G p.V642= Synonymous 11/20 - 4
10-43609974-C-T c.1926C>T p.V642= Synonymous 11/20 - 3
10-43609975-C-T c.1927C>T p.L643F Missense 11/20 - 4
10-43609976-T-C c.1928T>C p.L643P Missense 11/20 - 1
10-43609976-T-G c.1928T>G p.L643R Missense 11/20 - 1
10-43609977-C-A c.1929C>A p.L643= Synonymous 11/20 - 1
10-43609977-C-G c.1929C>G p.L643= Synonymous 11/20 - 1
10-43609977-C-T c.1929C>T p.L643= Synonymous 11/20 - 1
10-43609978-T-A c.1930T>A p.F644I Missense 11/20 - 1
10-43609978-T-C c.1930T>C p.F644L Missense 11/20 - 4
10-43609980-C-A c.1932C>A p.F644L Missense 11/20 - 4
10-43609980-C-G c.1932C>G p.F644L Missense 11/20 - 5
10-43609979-T-C c.1931T>C p.F644S Missense 11/20 - 3
10-43609980-C-T c.1932C>T p.F644= Synonymous 11/20 - 2
10-43609981-T-C c.1933T>C p.S645P Missense 11/20 - 1
10-43609982-C-A c.1934C>A p.S645Y Missense 11/20 - 2
10-43609982-C-T c.1934C>T p.S645F Missense 11/20 - 5
10-43609983-C-A c.1935C>A p.S645= Synonymous 11/20 - 1
10-43609983-C-G c.1935C>G p.S645= Synonymous 11/20 - 1
10-43609983-C-T c.1935C>T p.S645= Synonymous 11/20 - 4
10-43609984-T-C c.1936T>C p.F646L Missense 11/20 - 1
10-43609986-C-A c.1938C>A p.F646L Missense 11/20 - 1
10-43609986-C-G c.1938C>G p.F646L Missense 11/20 - 1
10-43609985-T-C c.1937T>C p.F646S Missense 11/20 - 1
10-43609986-C-T c.1938C>T p.F646= Synonymous 11/20 - 2
10-43609987-A-C c.1939A>C p.I647L Missense 11/20 - 1
10-43609987-A-G c.1939A>G p.I647V Missense 11/20 - 1
10-43609988-T-C c.1940T>C p.I647T Missense 11/20 - 1
10-43609988-T-G c.1940T>G p.I647S Missense 11/20 - 1
10-43609989-C-A c.1941C>A p.I647= Synonymous 11/20 - 2
10-43609989-C-T c.1941C>T p.I647= Synonymous 11/20 - 10
10-43609990-G-A c.1942G>A p.V648I Missense 11/20 - 34
10-43609990-G-T c.1942G>T p.V648F Missense 11/20 - 1
10-43609991-T-C c.1943T>C p.V648A Missense 11/20 - 1
10-43609991-T-G c.1943T>G p.V648G Missense 11/20 - 1
10-43609992-C-A c.1944C>A p.V648= Synonymous 11/20 - 2
10-43609992-C-G c.1944C>G p.V648= Synonymous 11/20 - 2
10-43609992-C-T c.1944C>T p.V648= Synonymous 11/20 - 2
10-43609993-T-A c.1945T>A p.S649T Missense 11/20 - 1
10-43609993-T-C c.1945T>C p.S649P Missense 11/20 - 1
10-43609993-T-G c.1945T>G p.S649A Missense 11/20 - 1
10-43609994-C-T c.1946C>T p.S649L Missense 11/20 - 57
10-43609994-TC-T c.1946del p.S649Wfs*26 Frameshift 11/20 - 1
10-43609995-G-A c.1947G>A p.S649= Synonymous 11/20 - 5
10-43609995-G-C c.1947G>C p.S649= Synonymous 11/20 - 4
10-43609995-G-T c.1947G>T p.S649= Synonymous 11/20 - 5
10-43609996-G-A c.1948G>A p.V650M Missense 11/20 - 2
10-43609997-T-C c.1949T>C p.V650A Missense 11/20 - 2
10-43609998-G-A c.1950G>A p.V650= Synonymous 11/20 - 1
10-43609998-G-C c.1950G>C p.V650= Synonymous 11/20 - 1
10-43609998-G-T c.1950G>T p.V650= Synonymous 11/20 - 1
10-43609999-C-A c.1951C>A p.L651M Missense 11/20 - 1
10-43610000-T-C c.1952T>C p.L651P Missense 11/20 - 2
10-43609999-C-T c.1951C>T p.L651= Synonymous 11/20 - 2
10-43610001-G-A c.1953G>A p.L651= Synonymous 11/20 - 8
10-43610001-G-C c.1953G>C p.L651= Synonymous 11/20 - 2
10-43610001-G-T c.1953G>T p.L651= Synonymous 11/20 - 2
10-43610002-C-G c.1954C>G p.L652V Missense 11/20 - 1
10-43610003-T-C c.1955T>C p.L652P Missense 11/20 - 1
10-43610002-C-T c.1954C>T p.L652= Synonymous 11/20 - 1
10-43610004-G-A c.1956G>A p.L652= Synonymous 11/20 - 1
10-43610004-G-C c.1956G>C p.L652= Synonymous 11/20 - 3
10-43610004-G-T c.1956G>T p.L652= Synonymous 11/20 - 1
10-43610005-T-A c.1957T>A p.S653T Missense 11/20 - 1
10-43610005-T-G c.1957T>G p.S653A Missense 11/20 - 1
10-43610006-C-G c.1958C>G p.S653C Missense 11/20 - 3
10-43610006-C-T c.1958C>T p.S653F Missense 11/20 - 2
10-43610008-G-A c.1960G>A p.A654T Missense 11/20 - 1
10-43610008-G-C c.1960G>C p.A654P Missense 11/20 - 1
10-43610009-C-T c.1961C>T p.A654V Missense 11/20 - 2
10-43610011-T-C c.1963T>C p.F655L Missense 11/20 - 1
10-43610013-C-G c.1965C>G p.F655L Missense 11/20 - 2
10-43610013-C-T c.1965C>T p.F655= Synonymous 11/20 - 1
10-43610015-G-A c.1967G>A p.C656Y Missense 11/20 - 4
10-43610015-G-C c.1967G>C p.C656S Missense 11/20 - 1
10-43610015-G-T c.1967G>T p.C656F Missense 11/20 - 2
10-43610016-C-A c.1968C>A p.C656* Nonsense 11/20 - 1
10-43610016-C-T c.1968C>T p.C656= Synonymous 11/20 - 1
10-43610017-A-C c.1969A>C p.I657L Missense 11/20 - 1
10-43610018-T-G c.1970T>G p.I657S Missense 11/20 - 3
10-43610019-C-A c.1971C>A p.I657= Synonymous 11/20 - 2
10-43610019-C-T c.1971C>T p.I657= Synonymous 11/20 - 3
10-43610020-C-T c.1972C>T p.H658Y Missense 11/20 - 4
10-43610021-A-G c.1973A>G p.H658R Missense 11/20 - 1
10-43610022-C-A c.1974C>A p.H658Q Missense 11/20 - 1
10-43610022-C-T c.1974C>T p.H658= Synonymous 11/20 - 1
10-43610023-CT-C c.1975del p.C659Afs*16 Frameshift 11/20 - 1
10-43610024-G-A c.1976G>A p.C659Y Missense 11/20 - 1
10-43610025-C-G c.1977C>G p.C659W Missense 11/20 - 1
10-43610029-C-T c.1981C>T p.H661Y Missense 11/20 - 1
10-43610030-A-G c.1982A>G p.H661R Missense 11/20 - 1
10-43610030-A-T c.1982A>T p.H661L Missense 11/20 - 2
10-43610031-C-T c.1983C>T p.H661= Synonymous 11/20 - 1
10-43610031-CA-C c.1985del p.K662Sfs*13 Frameshift 11/20 - 1
10-43610033-A-C c.1985A>C p.K662T Missense 11/20 - 2
10-43610033-A-T c.1985A>T p.K662M Missense 11/20 - 1
10-43610034-G-A c.1986G>A p.K662= Synonymous 11/20 - 1
10-43610034-G-C c.1986G>C p.K662N Missense 11/20 - 2
10-43610034-G-T c.1986G>T p.K662N Missense 11/20 - 1
10-43610038-G-A c.1990G>A p.A664T Missense 11/20 - 1
10-43610039-C-A c.1991C>A p.A664D Missense 11/20 - 11
10-43610039-C-T c.1991C>T p.A664V Missense 11/20 - 1
10-43610042-A-T c.1994A>T p.H665L Missense 11/20 - 1
10-43610043-C-A c.1995C>A p.H665Q Missense 11/20 - 2
10-43610043-C-G c.1995C>G p.H665Q Missense 11/20 - 2
10-43610044-A-C c.1996A>C p.K666Q Missense 11/20 - 1
10-43610044-A-G c.1996A>G p.K666E Missense 11/20 - 30
10-43610045-A-AT c.1997_1998insT p.K666Nfs*8 Frameshift 11/20 - 1
10-43610045-A-C c.1997A>C p.K666T Missense 11/20 - 2
10-43610045-A-G c.1997A>G p.K666R Missense 11/20 - 1
10-43610045-A-T c.1997A>T p.K666M Missense 11/20 - 6
10-43610046-G-C c.1998G>C p.K666N Missense 11/20 - 10
10-43610046-G-T c.1998G>T p.K666N Missense 11/20 - 16
10-43610047-CCA-TAT c.1999_2001delinsTAT p.P667Y Missense 11/20 - 1
10-43610047-C-T c.1999C>T p.P667S Missense 11/20 - 2
10-43610046-GC-G c.2000del p.P667Hfs*8 Frameshift 11/20 - 1
10-43610048-C-T c.2000C>T p.P667L Missense 11/20 - 1
10-43610049-A-T c.2001A>T p.P667= Synonymous 11/20 - 2
10-43610050-C-T c.2002C>T p.P668S Missense 11/20 - 2
10-43610049-ACCCATCTCCT-A c.2003_2012del p.P668Qfs*4 Frameshift 11/20 - 1
10-43610051-C-A c.2003C>A p.P668H Missense 11/20 - 2
10-43610051-C-T c.2003C>T p.P668L Missense 11/20 - 2
10-43610057-C-T c.2009C>T p.S670F Missense 11/20 - 1
10-43610060-C-T c.2012C>T p.S671L Missense 11/20 - 4
10-43610062-G-T c.2014G>T p.A672S Missense 11/20 - 4
10-43610063-C-G c.2015C>G p.A672G Missense 11/20 - 1
10-43610063-C-T c.2015C>T p.A672V Missense 11/20 - 2
10-43610064-T-G c.2016T>G p.A672= Synonymous 11/20 - 1
10-43610065-G-A c.2017G>A p.E673K Missense 11/20 - 5
10-43610066-A-C c.2018A>C p.E673A Missense 11/20 - 2
10-43610066-A-G c.2018A>G p.E673G Missense 11/20 - 1
10-43610066-A-T c.2018A>T p.E673V Missense 11/20 - 1
10-43610067-G-A c.2019G>A p.E673= Synonymous 11/20 - 1
10-43610070-G-A c.2022G>A p.M674I Missense 11/20 - 2
10-43610070-G-C c.2022G>C p.M674I Missense 11/20 - 2
10-43610070-G-T c.2022G>T p.M674I Missense 11/20 - 2
10-43610071-AC-GA c.2023_2024delinsGA p.T675D Missense 11/20 - 1
10-43610071-A-G c.2023A>G p.T675A Missense 11/20 - 2
10-43610072-C-T c.2024C>T p.T675I Missense 11/20 - 1
10-43610074-T-A c.2026T>A p.F676I Missense 11/20 - 1
10-43610077-C-T c.2029C>T p.R677W Missense 11/20 - 1
10-43610078-G-A c.2030G>A p.R677Q Missense 11/20 - 2
10-43610078-G-T c.2030G>T p.R677L Missense 11/20 - 1
10-43610079-G-A c.2031G>A p.R677= Synonymous 11/20 - 1
10-43610079-G-T c.2031G>T p.R677= Synonymous 11/20 - 1
10-43610080-A-G c.2032A>G p.R678G Missense 11/20 - 1
10-43610080-AG-CA c.2032_2033delinsCA p.R678Q Missense 11/20 - 1
10-43610081-G-A c.2033G>A p.R678K Missense 11/20 - 3
10-43610084-C-T c.2036C>T p.P679L Missense 11/20 - 8
10-43610085-C-T c.2037C>T p.P679= Synonymous 11/20 - 3
10-43610086-G-A c.2038G>A p.A680T Missense 11/20 - 16
10-43610086-G-T c.2038G>T p.A680S Missense 11/20 - 1
10-43610087-C-T c.2039C>T p.A680V Missense 11/20 - 3
10-43610088-C-T c.2040C>T p.A680= Synonymous 11/20 - 1
10-43610089-C-G c.2041C>G p.Q681E Missense 11/20 - 7
10-43610089-C-T c.2041C>T p.Q681* Nonsense 11/20 - 4
10-43610090-A-T c.2042A>T p.Q681L Missense 11/20 - 1
10-43610090-CA-C c.2042del p.Q681Rfs*50 Frameshift 11/20 - 1
10-43610091-G-C c.2043G>C p.Q681H Missense 11/20 - 1
10-43610092-G-A c.2044G>A p.A682T Missense 11/20 - 1
10-43610093-C-G c.2045C>G p.A682G Missense 11/20 - 1
10-43610093-C-T c.2045C>T p.A682V Missense 11/20 - 2
10-43610095-T-C c.2047T>C p.F683L Missense 11/20 - 1
10-43610097-C-A c.2049C>A p.F683L Missense 11/20 - 1
10-43610097-C-G c.2049C>G p.F683L Missense 11/20 - 1
10-43610098-C-T c.2050C>T p.P684S Missense 11/20 - 1
10-43610099-C-A c.2051C>A p.P684Q Missense 11/20 - 2
10-43610099-C-T c.2051C>T p.P684L Missense 11/20 - 7
10-43610100-G-A c.2052G>A p.P684= Synonymous 11/20 - 2
10-43610100-G-C c.2052G>C p.P684= Synonymous 11/20 - 1
10-43610100-G-T c.2052G>T p.P684= Synonymous 11/20 - 1
10-43610101-G-A c.2053G>A p.V685I Missense 11/20 - 7
10-43610101-G-T c.2053G>T p.V685F Missense 11/20 - 1
10-43610102-T-C c.2054T>C p.V685A Missense 11/20 - 1
10-43610105-G-A c.2057G>A p.S686N Missense 11/20 - 2
10-43610104-A-C c.2056A>C p.S686R Missense 11/20 - 1
10-43610106-C-A c.2058C>A p.S686R Missense 11/20 - 2
10-43610106-C-G c.2058C>G p.S686R Missense 11/20 - 1
10-43610107-TAC-GAG c.2059_2061delinsGAG p.Y687E Missense 11/20 - 1
10-43610107-TA-GC c.2059_2060delinsGC p.Y687A Missense 11/20 - 1
10-43610107-T-C c.2059T>C p.Y687H Missense 11/20 - 1
10-43610108-A-G c.2060A>G p.Y687C Missense 11/20 - 2
10-43610108-A-T c.2060A>T p.Y687F Missense 11/20 - 3
10-43610109-C-A c.2061C>A p.Y687* Nonsense 11/20 - 1
10-43610109-C-G c.2061C>G p.Y687* Nonsense 11/20 - 1
10-43610110-T-A c.2062T>A p.S688T Missense 11/20 - 1
10-43610110-T-C c.2062T>C p.S688P Missense 11/20 - 2
10-43610111-C-A c.2063C>A p.S688Y Missense 11/20 - 3
10-43610111-C-T c.2063C>T p.S688F Missense 11/20 - 1
10-43610112-C-A c.2064C>A p.S688= Synonymous 11/20 - 1
10-43610113-TC-AA c.2065_2066delinsAA p.S689N Missense 11/20 - 1
10-43610114-C-A c.2066C>A p.S689Y Missense 11/20 - 1
10-43610114-C-G c.2066C>G p.S689C Missense 11/20 - 1
10-43610116-T-C c.2068T>C p.S690P Missense 11/20 - 4
10-43610117-C-T c.2069C>T p.S690F Missense 11/20 - 5
10-43610119-G-A c.2071G>A p.G691S Missense 11/20 - 186
10-43610119-G-C c.2071G>C p.G691R Missense 11/20 - 26
10-43610119-G-T c.2071G>T p.G691C Missense 11/20 - 24
10-43610121-T-A c.2073T>A p.G691= Synonymous 11/20 - 2
10-43610121-T-C c.2073T>C p.G691= Synonymous 11/20 - 2
10-43610121-T-G c.2073T>G p.G691= Synonymous 11/20 - 2
10-43610122-G-A c.2074G>A p.A692T Missense 11/20 - 1
10-43610122-G-T c.2074G>T p.A692S Missense 11/20 - 3
10-43610123-C-A c.2075C>A p.A692D Missense 11/20 - 2
10-43610123-CC-AG c.2075_2076delinsAG p.A692E Missense 11/20 - 1
10-43610123-C-T c.2075C>T p.A692V Missense 11/20 - 2
10-43610124-C-A c.2076C>A p.A692= Synonymous 11/20 - 1
10-43610125-C-T c.2077C>T p.R693C Missense 11/20 - 9
10-43610126-G-A c.2078G>A p.R693H Missense 11/20 - 6
10-43610128-CG-GC c.2080_2081delinsGC p.R694A Missense 11/20 - 1
10-43610128-CGG-TGT c.2080_2082delinsTGT p.R694C Missense 11/20 - 1
10-43610128-C-T c.2080C>T p.R694W Missense 11/20 - 5
10-43610129-G-A c.2081G>A p.R694Q Missense 11/20 - 13
10-43610131-CC-TG c.2083_2084delinsTG p.P695C Missense 11/20 - 1
10-43610131-C-G c.2083C>G p.P695A Missense 11/20 - 3
10-43610131-C-T c.2083C>T p.P695S Missense 11/20 - 2
10-43610130-GC-G c.2085del p.S696Rfs*35 Frameshift 11/20 - 1
10-43610134-T-G c.2086T>G p.S696A Missense 11/20 - 1
10-43610135-C-T c.2087C>T p.S696L Missense 11/20 - 1
10-43610136-G-A c.2088G>A p.S696= Synonymous 11/20 - 1
10-43610136-G-T c.2088G>T p.S696= Synonymous 11/20 - 1
10-43610140-G-A c.2092G>A p.D698N Missense 11/20 - 7
10-43610140-G-T c.2092G>T p.D698Y Missense 11/20 - 1
10-43610141-A-G c.2093A>G p.D698G Missense 11/20 - 1
10-43610143-TC-CG c.2095_2096delinsCG p.S699R Missense 11/20 - 1
10-43610144-C-T c.2096C>T p.S699F Missense 11/20 - 2
10-43610146-A-G c.2098A>G p.M700V Missense 11/20 - 1
10-43610147-T-C c.2099T>C p.M700T Missense 11/20 - 4
10-43610148-G-A c.2100G>A p.M700I Missense 11/20 - 1
10-43610148-G-C c.2100G>C p.M700I Missense 11/20 - 1
10-43610148-G-T c.2100G>T p.M700I Missense 11/20 - 1
10-43610149-G-A c.2101G>A p.E701K Missense 11/20 - 3
10-43610151-GAACCA-CTCCAT c.2103_2108delinsCTCCAT p.E701_Q703delinsDSM MultiAAMissense 11/20 - 1
10-43610153-A-C c.2105A>C p.N702T Missense 11/20 - 1
10-43610154-C-A c.2106C>A p.N702K Missense 11/20 - 1
10-43610154-C-G c.2106C>G p.N702K Missense 11/20 - 1
10-43610155-C-T c.2107C>T p.Q703* Nonsense 11/20 - 1
10-43610157-G-A c.2109G>A p.Q703= Synonymous 11/20 - 1
10-43610157-G-C c.2109G>C p.Q703H Missense 11/20 - 2
10-43610157-G-T c.2109G>T p.Q703H Missense 11/20 - 1
10-43610158-G-A c.2110G>A p.V704I Missense 11/20 - 2
10-43610158-G-T c.2110G>T p.V704F Missense 11/20 - 2
10-43610159-T-A c.2111T>A p.V704D Missense 11/20 - 2
10-43610159-T-C c.2111T>C p.V704A Missense 11/20 - 1
10-43610159-T-G c.2111T>G p.V704G Missense 11/20 - 1
10-43610160-C-A c.2112C>A p.V704= Synonymous 11/20 - 1
10-43610162-C-T c.2114C>T p.S705F Missense 11/20 - 2
10-43610163-C-T c.2115C>T p.S705= Synonymous 11/20 - 6
10-43610164-G-A c.2116G>A p.V706M Missense 11/20 - 17
10-43610164-G-C